المؤلفون: Costa-Roger, Mar, Blasco-Pérez, Laura, Codina-Solà, Marta, Leno-Colorado, Jordi, Tizzano, Eduardo F., Gerin, Lorene, Gómez-García de la Banda, Marta, Garcia-Uzquiano, Rocio, Saugier-Veber, Pascale, Drunat, Séverine, Quijano-Roy, Susana

المساهمون: Université Paris-Saclay, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Hôpital Raymond Poincaré AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM), Instituto de Salud Carlos III, Roche España, Biogen, European Regional Development Fund

المصدر: Neurology: Genetics ; https://hal.science/hal-04831744 ; Neurology: Genetics, 2024, 10 (4), ⟨10.1212/NXG.0000000000200175⟩

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04831744
https://doi.org/10.1212/NXG.0000000000200175

المؤلفون: Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana, Vissers, Lisenka E. L. M., SOLVE-RD consortium, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Sturm, Marc, Park, Joohyun, Schütz, Leon, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kellner, Melanie, Resch, Baptist, Kolen, Ingrid, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Beijer, Danique, Heutink, Peter, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Boßelmann, Christian, Kegele, Josua, Lauerer-Braun, Robert, Lauxmann, Stephan, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ’t Hoen, Peter A. C., Steyaert, Wouter, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Neveling, Kornelia, van der Sanden, Bart, Sagath, Lydia, Kleefstra, Tjitske, Brookes, Anthony J., Gibson, Spencer, Riaz, Umar, Warren, Greg, Nalagandla, Sai Anuhya, Wang, Yunze Patrick, Sukumaran, Deepthi, Abadijou, Sadegh, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Couturier, Victor, Gut, Ivo Glynne, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Codina, Anna Esteve, Dabad, Marc, Gut, Marta, Raineri, Emanuele, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lucano, Caterina, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Ryba, Lukáš, Lišková, Petra, Doležalová, Pavla, Krebsová, Alice, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Bellampalli, Ravishankara, Moloney, Patrick, Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Perry, Luke, Pini, Veronica, Müller, Juliane, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, de Jonghe, Peter, De Ridder, Willem, Weckhuysen, Sarah, Stamberger, Hannah, Millevert, Charissa, Smal, Noor, Nigro, Vincenzo, Morleo, Manuela, Pinelli, Michele, Banfi, Sandro, Torella, Annalaura, Zeuli, Roberta, Zanobio, Mariateresa, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Barbosa-Matos, Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Ruvolo, David, van Gijn, Marielle, Abbott, Kristin M., Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Köhler, Sebastian, Metcalfe, Alison, Moore, Richard, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Jamra, Rami Abou, Abramowicz, Marc, Kiliçarslan, Özge Aksel, Allen, Nicholas, Javier Alonso García de la Rosa, Francisco, Balestrini, Simona, Balicza, Peter, Bartolomaeus, Tobias, Başak, Ayşe Nazl, Masó, Laura Batlle, Beeson, David, Benoit, Valerie, Benson, Katherine, Sánchez, Eva Bermejo, Bijlsma, Emilia K., Bogaert, Elke, Bourbouli, Mara, Boztug, Kaan, Brohée, Sylvain, Byrne, Susan, Garcia de Oteyza, Andrés Caballero, Capella, Gabriel, Carpancea, Evelina, Cavalleri, Gianpiero, Cazurro-Gutiérrez, Ana, Chinnery, Patrick F., Cilio, Maria-Roberta, Ciolfi, Andrea, Claeys, Kristl, Colobran, Roger, Cordts, Isabell, Cossins, Judith, Dahan, Karin, Dallapiccola, Bruno, Delanty, Norman, Depienne, Christel, Depondt, Chantal, Dermaut, Bart, Deschauer, Marcus, Desir, Julie, Destrée, Anne, Drakos, Minas, Duerinckx, Sarah, Estevez, Berta, Evangeliou, Athanasios, Fallerini, Chiara, Ferilli, Marco, Furini, Simone, Gagneur, Julien, Ghani, Hamidah, Greally, Marie, Grimbacher, Bodo, Guerrini, Renzo, Hackman, Peter, Haimel, Matthias, Bouveret, Eva Hammar, Hemelsoet, Dimitri, Herzog, Rebecca, Hoffer, Mariette J. V., Holinski-Feder, Elke, Horvath, Rita, Huibers, Manon, Iacomino, Michele, Johari, Mridul, Kapaki, Elisabeth, Karadurmus, Deniz, Karakaya, Mert, Kokosali, Evgenia, Korff, Christian, Krass, Leon, Lacombe, Didier, Laner, Andreas, Leavis, Helen, Lederer, Damien, Leitão, Elsa, Lochmüller, Hanns, Martín, Estrella López, Luknárová, Rebeka, Macaya, Alfons, Malaichamy, Sivasankar, Marcé-Grau, Anna, Delgado, Beatriz Martínez, Mary, Sandrine, Masclaux, Frédéric, Mathioudakis, Lambros, Maver, Ales, MAY, Patrick, Maystadt, Isabelle, Mei, Davide, Mertes, Christian, Meunier, Colombine, Molnar, Maria Judit, Monestier, Olivier, Moortgat, Stéphanie, Münchau, Alexander, Munell, Francina, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Reghan, Mary O., Olimpio, Catarina, Parrini, Elena, Pauly, Martje, Pérez-Dueñas, Belén, Peterlin, Borut, Platzer, Konrad, Polavarapu, Kiran, Poppe, Bruce, De la Paz, Manuel Posada, Privitera, Flavia, Radio, Francesca Clementina, Ratnaike, Thiloka, Renieri, Alessandra, Riva, Antonella, Rooryck, Caroline, Roos, Andreas, Ruivenkamp, Claudia A. L., Rump, Andreas, Santen, Gijs W. E., Savarese, Marco, Scala, Marcello, Schon, Katherine, Schröck, Evelin, Scudieri, Paolo, Spilioti, Martha, Steinke-Lange, Verena, Striano, Pasquale, Sznajer, Yves, Tartaglia, Marco, Thompson, Rachel, Trimouille, Aurelien, Udd, Bjarne, Uva, Paolo, Valle, Laura, van der Veken, Lars, van Heurck, Roxane, van Montfrans, Joris, Van Nieuwenhove, Erika, Verdin, Hannah, Webb, David, Wirth, Brunhilde, Yépez, Vicente A., Zaganas, Ioannis, Zara, Federico, Zguro, Kristina, Laurie, Steven

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: npj Genomic Medicine, 9 (1) (2024-10-26)

مصطلحات موضوعية: CNVs, Exome sequencing, Rare diseases, Human health sciences, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.nature.com/articles/s41525-024-00436-6.pdf; urn:issn:2056-7944; https://orbilu.uni.lu/handle/10993/62319; info:hdl:10993/62319; https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf

الاتاحة: https://orbilu.uni.lu/handle/10993/62319
https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf
https://doi.org/10.1038/s41525-024-00436-6

المؤلفون: Kraoua, Ichraf, Jamoussi, Maha, Drissi, Cyrine, Kraoua, Lilia, Drunat, Séverine, Benrhouma, Hanene, Ben Younes, Thouraya, Nagi, Sonia, Abdelhak, Sonia, Boespflug Tanguy, Odile, Youssef‐Turki, Ilhem Ben, Trabelsi, Mediha, Dorboz, Imen

المصدر: Molecular Genetics & Genomic Medicine ; volume 12, issue 10 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.70007
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.70007

المؤلفون: Vial, Yoann, Nardelli, Jeannette, Bonnard, Adeline A, Rousselot, Justine, Souyri, Michèle, Gressens, Pierre, Cavé, Hélène, Drunat, Séverine

المساهمون: Direction generale de l'offre de soins

المصدر: EMBO Reports ; volume 25, issue 5, page 2418-2440 ; ISSN 1469-3178

الاتاحة: http://dx.doi.org/10.1038/s44319-024-00123-8
https://www.embopress.org/doi/epdf/10.1038/s44319-024-00123-8
https://www.embopress.org/doi/full/10.1038/s44319-024-00123-8

المؤلفون: Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G., Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian, consortium, Solve-R. D., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoen, Peter A. C. T, Vissers, Lisenka E. L. M., Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, te Paske, Iris, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Abbott, Kristin M., Frederikse, Wilhemina Skerstjens, Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Rooryck, Caroline, Lacombe, Didier, Trimouille, Aurelien, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Beeson, David, Cossins, Judith, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Chinnery, Patrick F., Ratnaike, Thiloka, Gao, Fei, Schon, Katherine, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Başak, Ayşe Nazlı, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Claeys, Kristl, Santen, Gijs W. E., Bijlsma, Emilia K., Hoffer, Mariette J. V., Ruivenkamp, Claudia A. L., Boztug, Kaan, Haimel, Matthias, Maystadt, Isabelle, Cordts, Isabelle, Deschauer, Marcus, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Depienne, Christel, Roos, Andreas, MAY, Patrick

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: Human Genomics, 17 (1), 39 (2023-05-03)

مصطلحات موضوعية: Life sciences, Genetics & genetic processes, Human health sciences, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine

Relation: https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5; urn:issn:1473-9542; urn:issn:1479-7364; https://orbilu.uni.lu/handle/10993/55059; info:hdl:10993/55059; https://orbilu.uni.lu/bitstream/10993/55059/1/Yaldiz2023.HumanGenomics.pdf; info:pmid:37138343; wos:000979939700001

الاتاحة: https://orbilu.uni.lu/handle/10993/55059
https://orbilu.uni.lu/bitstream/10993/55059/1/Yaldiz2023.HumanGenomics.pdf
https://doi.org/10.1186/s40246-023-00485-5

المؤلفون: Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, MAY, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: Genetics in Medicine, 25 (4), 100018 (2023-01-19)

مصطلحات موضوعية: ClinVar, Developmental disorder, Rare diseases, Exome reanalysis, Human health sciences, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Sciences du vivant, Génétique & processus génétiques

Relation: https://doi.org/10.1016/j.gim.2023.100018; urn:issn:1098-3600; urn:issn:1530-0366; https://orbilu.uni.lu/handle/10993/54941; info:hdl:10993/54941; https://orbilu.uni.lu/bitstream/10993/54941/1/PIIS1098360023000242.pdf; info:pmid:36681873; wos:001000649600001

الاتاحة: https://orbilu.uni.lu/handle/10993/54941
https://orbilu.uni.lu/bitstream/10993/54941/1/PIIS1098360023000242.pdf
https://doi.org/10.1016/j.gim.2023.100018

المؤلفون: Jackson, Adam, Lin, Sheng-Jia, Jones, Elizabeth A., Chandler, Kate E., Orr, David, Moss, Celia, Haider, Zahra, Ryan, Gavin, Holden, Simon, Harrison, Mike, Burrows, Nigel, Jones, Wendy D., Loveless, Mary, Petree, Cassidy, Stewart, Helen, Low, Karen, Donnelly, Deirdre, Lovell, Simon, Drosou, Konstantina, Varshney, Gaurav K., Banka, Siddharth, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Alexander, Elizabeth, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, Van de Vondel, Liedewei, Beijer, Danique, de Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Marcé-Grau, Anna, Osorio, Andres Nascimiento, Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Rodriguez Cruz, Pedro M., Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas

المساهمون: Jackson, Adam, Lin, Sheng-Jia, Jones, Elizabeth A., Chandler, Kate E., Orr, David, Moss, Celia, Haider, Zahra, Ryan, Gavin, Holden, Simon, Harrison, Mike, Burrows, Nigel, Jones, Wendy D., Loveless, Mary, Petree, Cassidy, Stewart, Helen, Low, Karen, Donnelly, Deirdre, Lovell, Simon, Drosou, Konstantina, Varshney, Gaurav K., Banka, Siddharth, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mcentagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthi, Wilke, Carlo, Traschütz, Andrea, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han

مصطلحات موضوعية: Autosomal recessive ectodermal dysplasia type 14, Closca, Conical teeth, Ectodermal dysplasia, Enamel knot, Extracellular matrix dependant signalling, Hypodontia, TSPEAR, WNT10A, zebrafish fin regeneration

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37009414; info:eu-repo/semantics/altIdentifier/wos/WOS:000961108100001; volume:4; issue:2; firstpage:100186-1; lastpage:100186-19; numberofpages:19; journal:HGG ADVANCES; https://hdl.handle.net/11392/2543394; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85150337683; https://www.sciencedirect.com/science/article/pii/S2666247723000180?via=ihub

الاتاحة: https://hdl.handle.net/11392/2543394
https://doi.org/10.1016/j.xhgg.2023.100186
https://www.sciencedirect.com/science/article/pii/S2666247723000180?via=ihub

المؤلفون: Frost, F. Graeme, Morimoto, Marie, Sharma, Prashant, Ruaud, Lyse, Belnap, Newell, Calame, Daniel G., Uchiyama, Yuri, Matsumoto, Naomichi, Oud, Machteld M., Ferreira, Elise A., Narayanan, Vinodh, Rangasamy, Sampath, Huentelman, Matt, Emrick, Lisa T., Sato-Shirai, Ikuko, Kumada, Satoko, Wolf, Nicole I., Steinbach, Peter J., Huang, Yan, Pusey, Barbara N., Passemard, Sandrine, Levy, Jonathan, Drunat, Séverine, Vincent, Marie, Guet, Agnès, Agolini, Emanuele, Novelli, Antonio, Digilio, Maria Cristina, Rosenfeld, Jill A., Murphy, Jennifer L., Lupski, James R., Vezina, Gilbert, Macnamara, Ellen F., Adams, David R., Acosta, Maria T., Tifft, Cynthia J., Gahl, William A., Malicdan, May Christine V.

المصدر: The American Journal of Human Genetics ; volume 110, issue 4, page 663-680 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.03.001
https://api.elsevier.com/content/article/PII:S000292972300085X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S000292972300085X?httpAccept=text/plain

المؤلفون: Ruaud, Lyse, Drunat, Séverine, Elmaleh‐bergès, Monique, Ernault, Anais, Guilmin Crepon, Sophie, Ghouzzi, Vincent El, Auvin, Stéphane, Verloes, Alain, van Maldergem, Lionel, Engel, Camille, Altuzarra, Cecilia, Lamidieu, Charlie, Bayat, Allan, Moortgat, Stéphanie, Pelc, Karine, Maystadt, Isabelle, Abramowicz, Marc, Pirson, Isabelle, Duerinckx, Sarah, Rostomashvili, Nino, Zweier, Christiane, Abou Jamra, Rami, Lorenz, Imke, Haye, Damien, Zaafrane‐khachnaoui, Khaoula, Vaessen, Sandrine, Capri, Yline, Servais, Laurent, Di Maria, Emilio, Kohlhase, Jürgen, Bast, Thomas, Miladi, Najoua, Dali, Selma, Passemard, Sandrine

المساهمون: Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Robert Debré, Département de génétique Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), ANR-13-RARE-0007,EUROMICRO,Primary monogenic microcephalies : from genetics to pathophysiology and the clinic(2013)

المصدر: ISSN: 0012-1622 ; Developmental Medicine and Child Neurology ; https://hal.science/hal-03357164 ; Developmental Medicine and Child Neurology, 2022, ⟨10.1111/dmcn.15060⟩.

مصطلحات موضوعية: [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: hal-03357164; https://hal.science/hal-03357164; https://hal.science/hal-03357164/document; https://hal.science/hal-03357164/file/Proofs%20dmcn15060.pdf

الاتاحة: https://hal.science/hal-03357164
https://hal.science/hal-03357164/document
https://hal.science/hal-03357164/file/Proofs%20dmcn15060.pdf
https://doi.org/10.1111/dmcn.15060

المؤلفون: Amin, Mutaz, Vignal, Cedric, Eltaraifee, Esraa, Mohammed, Inaam N., Hamed, Ahlam A. A., Elseed, Maha A., Babai, Arwa, Elbadi, Iman, Mustafa, Doua, Abubaker, Rayan, Mustafa, Mohamed, Drunat, Severine, Elsayed, Liena E. O., Ahmed, Ammar E., Boespflug-Tanguy, Odile, Dorboz, Imen

المصدر: BMC Medical Genomics ; volume 15, issue 1 ; ISSN 1755-8794

الاتاحة: http://dx.doi.org/10.1186/s12920-022-01354-1
https://link.springer.com/content/pdf/10.1186/s12920-022-01354-1.pdf
https://link.springer.com/article/10.1186/s12920-022-01354-1/fulltext.html

المؤلفون: Amin, Mutaz, Vignal, Cedric, Hamed, Ahlam A. A., Mohammed, Inaam N., Elseed, Maha A., Abubaker, Rayan, Bakhit, Yousuf, Babai, Arwa, Elbadi, Eman, Eltaraifee, Esraa, Mustafa, Doua, Yahia, Ashraf, Osman, Melka, Koko, Mahmoud, Mustafa, Mohamed, Alsiddig, Mohamed, Haroun, Sahwah, Elshafea, Azza, Drunat, Severine, Elsayed, Liena E. O., Ahmed, Ammar E., Boespflug-Tanguy, Odile, Dorboz, Imen

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

الاتاحة: http://dx.doi.org/10.3389/fgene.2022.883211
https://www.frontiersin.org/articles/10.3389/fgene.2022.883211/full

المؤلفون: Zurek, Birte, Ellwanger, Kornelia, Vissers, Lisenka E. L. M., Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, de Voer, Richarda M., Laurie, Steven, Matalonga, Leslie, Gilissen, Christian, Ossowski, Stephan, 't Hoen, Peter A. C., Vitobello, Antonio, Schulze-Hentrich, Julia M., Riess, Olaf, Brunner, Han G., Brookes, Anthony J., Rath, Ana, Bonne, Gisèle, Gumus, Gulcin, Verloes, Alain, Hoogerbrugge, Nicoline, Evangelista, Teresinha, Harmuth, Tina, Swertz, Morris, Spalding, Dylan, Hoischen, Alexander, Beltran, Sergi, Graessner, Holm, Haack, Tobias B., Demidov, German, Sturm, Marc, Kessler, Christoph, Wayand, Melanie, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han, Scheffer, Hans, Steyaert, Wouter, Sablauskas, Karolis, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, te Paske, Iris, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Gut, Ivo Glynne, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Bros-Facer, Virginie, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, Van de Vondel, Liedewei, Beijer, Danique, de Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Marcé-Grau, Anna, Osorio, Andres Nascimiento, de Benito, Daniel Natera, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Cruz, Pedro M. Rodriguez, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas

المساهمون: Zurek, Birte, Ellwanger, Kornelia, Vissers, Lisenka E. L. M., Schüle, Rebecca, Synofzik, Matthi, Töpf, Ana, de Voer, Richarda M., Laurie, Steven, Matalonga, Leslie, Gilissen, Christian, Ossowski, Stephan, 't Hoen, Peter A. C., Vitobello, Antonio, Schulze-Hentrich, Julia M., Riess, Olaf, Brunner, Han G., Brookes, Anthony J., Rath, Ana, Bonne, Gisèle, Gumus, Gulcin, Verloes, Alain, Hoogerbrugge, Nicoline, Evangelista, Teresinha, Harmuth, Tina, Swertz, Morri, Spalding, Dylan, Hoischen, Alexander, Beltran, Sergi, Graessner, Holm, Haack, Tobias B., Demidov, German, Sturm, Marc, Kessler, Christoph, Wayand, Melanie, Wilke, Carlo, Traschütz, Andrea, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han, Scheffer, Han, Steyaert, Wouter, Sablauskas, Karoli, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, te Paske, Iri, Janssen, Erik, de Boer, Elke, Steehouwer, Marloe, Yaldiz, Burcu, Kleefstra, Tjitske, Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thoma, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Denommé-Pichon, Anne-Sophie, Duffourd, Yanni, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Gut, Ivo Glynne, Piscia, Davide, Papakonstantinou, Anastasio, Bullich, Gemma, Corvo, Alberto, Garcia, Carle, Fernandez-Callejo, Marco, Hernández, Carle, Picó, Daniel, Paramonov, Ida, Lochmüller, Hann, Bros-Facer, Virginie, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia

مصطلحات موضوعية: Consensus Development Conferences as Topic, Europe, Genetic Diseases Inborn, Genetic Testing, Humans, Information Dissemination, Intersectoral Collaboration, Rare Diseases, Whole Exome Sequencing

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34075208; info:eu-repo/semantics/altIdentifier/wos/WOS:000656824000001; volume:29; issue:9; firstpage:1325; lastpage:1331; numberofpages:7; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11365/1277067; https://pmc.ncbi.nlm.nih.gov/articles/PMC8440542/

الاتاحة: https://hdl.handle.net/11365/1277067
https://doi.org/10.1038/s41431-021-00859-0
https://www.nature.com/articles/s41431-021-00859-0
https://pmc.ncbi.nlm.nih.gov/articles/PMC8440542/

المؤلفون: Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Baets, Jonathan, Chinnery, Patrick, Dürr, Alexandra, Haack, Tobias, Hengel, Holger, Kamsteeg, Erik-Jan, Kamsteeg, Christoph, Molnar, Judit, Riess, Olaf, Schüle, Rebecca, Stevanin, Giovanni, Synofzik, Matthis, Timmerman, Vincent, van Os, Nienke, Wayand, Melanie, Wilke, Carlo, van de Warrenburg, Bart, Schöls, Ludger, Bevot, Andrea, Zuchner, Stephan, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, de Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Marcé-Grau, Anna, Osorio, Andres Nascimiento, de Benito, Daniel Natera, Lochmüller, Hanns, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Cruz, Pedro M. Rodriguez, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas

المصدر: http://lobid.org/resources/99370671030206441#!, 29(9):1332-1336.

مصطلحات موضوعية: Neurodevelopmental disorders, Genomics/standards [MeSH], Datasets as Topic [MeSH], Humans [MeSH], Practice Guidelines as Topic [MeSH], Whole Exome Sequencing/methods [MeSH], Genomics/methods [MeSH], Neurodegenerative diseases, Viewpoint, Nervous System Diseases/pathology [MeSH], Genetic Testing/standards [MeSH], Rare Diseases/genetics [MeSH], Whole Exome Sequencing/standards [MeSH], Genetic Testing/methods [MeSH], Nervous System Diseases/genetics [MeSH], Movement disorders, Rare Diseases/pathology [MeSH]

Relation: https://repository.publisso.de/resource/frl:6442786; https://doi.org/10.1038/s41431-021-00901-1; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440537/

الاتاحة: https://repository.publisso.de/resource/frl:6442786
https://doi.org/10.1038/s41431-021-00901-1
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440537/

المؤلفون: Le, Thuy Linh, Galmiche, Louise, Levy, Jonathan, Suwannarat, Pim, Hellebrekers, Debby M.E.I., Morarach, Khomgrit, Boismoreau, Franck, Theunissen, Tom E.J., Lefebvre, Mathilde, Pelet, Anna, Martinovic, Jelena, Gelot, Antoinette, Guimiot, Fabien, Calleroz, Amanda, Gitiaux, Cyril, Hully, Marie, Goulet, Olivier, Chardot, Christophe, Drunat, Severine, Capri, Yline, Bole-Feysot, Christine, Nitschké, Patrick, Whalen, Sandra, Mouthon, Linda, Babcock, Holly E., Hofstra, Robert, de Coo, Irenaeus F.M., Tabet, Anne Claude, Molina, Thierry J., Keren, Boris, Brooks, Alice, Smeets, Hubert J.M., Marklund, Ulrika, Gordon, Christopher T., Lyonnet, Stanislas, Amiel, Jeanne, Bondurand, Nadège

المصدر: Le , T L , Galmiche , L , Levy , J , Suwannarat , P , Hellebrekers , D M E I , Morarach , K , Boismoreau , F , Theunissen , T E J , Lefebvre , M , Pelet , A , Martinovic , J , Gelot , A , Guimiot , F , Calleroz , A , Gitiaux , C , Hully , M , Goulet , O , Chardot , C , Drunat , S , Capri , Y , Bole-Feysot , C , Nitschké , P , Whalen , S , Mouthon ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/66907545-702e-4054-86f9-9dea31b626da
https://doi.org/10.1172/JCI145837
https://pure.eur.nl/ws/files/53883652/Dysregulation_of_the_NRG1_ERBB_pathway_causes_a_developmental_disorder_with_gastrointestinal_dysmotility_in_humans.pdf
http://www.scopus.com/inward/record.url?scp=85102693113&partnerID=8YFLogxK

المؤلفون: Courraud, Jeremie, Chater-Diehl, Eric, Durand, Benjamin, Vincent, Marie, Muniz Moreno, Maria del Mar, Boujelbene, Imène, Drouot, Nathalie, Genschik, Lauréline, Schaefer, Elise, Nizon, Mathilde, Gerard, Bénédicte, Abramowicz, Marc, Cogné, Benjamin, Bronicki, Lucas, Burglen, Lydie, Barth, Magalie, Charles, Perrine, Colin, Estelle, Coubes, Christine, David, Albert, Delobel, Bruno, Demurger, Florence, Passemard, Sandrine, Denommé, Anne-Sophie, Faivre, Laurence, Feger, Claire, Fradin, Melanie, Francannet, Christine, Genevieve, David, Goldenberg, Alice, Guerrot, Anne-Marie, Isidor, Bertrand, Johannesen, Katrine M., Keren, Boris, Kibæk, Maria, Kuentz, Paul, Mathieu-Dramard, Michele, Demeer, Bénédicte, Metreau, Julia, Steensbjerre Møller, Rikke, Moutton, Sébastien, Pasquier, Laurent, Pilekær Sørensen, Kristina, Perrin, Laurence, Renaud, Mathilde, Saugier, Pascale, Rio, Marlene, Svane, Joane, Thevenon, Julien, Tran Mau Them, Frederic, Tronhjem, Cathrine Elisabeth, Vitobello, Antonio, Layet, Valerie, Birling, Marie-Christine, Drunat, Severine, Bayat, Allan, Dubourg, Christèle, El Chehadeh, Salima, Fagerberg, Christina, Mignot, Cyril, Guipponi, Michel, Bienvenu, Thierry, Herault, Yann, Thompson, Julie, Willems, Marjolaine, Mandel, Jean-Louis, Weksberg, Rosanna, Piton, Amelie

المساهمون: Centre for Integrative Biology - CBI (Inserm U964 - CNRS UMR7104 - IGBMC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), The Hospital for sick children Toronto (SickKids), ITX - unité de recherche de l'institut du thorax (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôpitaux Universitaires de Strasbourg (HUS), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), University of Toronto, Institut universitaire de France (IUF), Ministère de l'Education nationale, de l’Enseignement supérieur et de la Recherche (M.E.N.E.S.R.), Agence de Biomédecine, Fondation APLM, Fondation Maladies Rares and Fondation Jérome Lejeune, ANR-10-INBS-0007,PHENOMIN,INFRASTRUCTURE NATIONALE EN PHENOGENOMIQUE SOURIS(2010)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: [INFO.INFO-AI]Computer Science [cs]/Artificial Intelligence [cs.AI], [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/34345024; hal-03269307; https://hal.science/hal-03269307; https://hal.science/hal-03269307/document; https://hal.science/hal-03269307/file/Courraud%20et%20al%20-%202021%20-%20Integrative%20approach%20to%20interpret%20DYRK1A%20variants.pdf; PUBMED: 34345024; WOS: 000680785600001

الاتاحة: https://hal.science/hal-03269307
https://hal.science/hal-03269307/document
https://hal.science/hal-03269307/file/Courraud%20et%20al%20-%202021%20-%20Integrative%20approach%20to%20interpret%20DYRK1A%20variants.pdf
https://doi.org/10.1038/s41436-021-01263-1

المؤلفون: Wilpert, Nina-Maria, Marguet, Florent, Maillard, Camille, Guimiot, Fabien, Martinovic, Jelena, Drunat, Séverine, Attié-Bitach, Tania, Razavi, Ferechté, Tessier, Aude, Capri, Yline, Laquerrière, Annie, Bahi-Buisson, Nadia

المصدر: European Journal of Medical Genetics ; volume 64, issue 9, page 104282 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2021.104282
https://api.elsevier.com/content/article/PII:S1769721221001488?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721221001488?httpAccept=text/plain

المؤلفون: Nasser, Hala, Vera, Liza, Elmaleh-Bergès, Monique, Steindl, Katharina, Létard, Pascaline, Teissier, Natacha, Ernault, Anais, Guimiot, Fabien, Afenjar, Alexandra, Moutard, Marie Laure, Héron, Delphine, Alembik, Yves, Momtchilova, Martha, Milani, Paolo, Kubis, Nathalie, Pouvreau, Nathalie, Zollino, Marcella, Guilmin Crepon, Sophie, Kaguelidou, Florentia, Gressens, Pierre, Verloes, Alain, Rauch, Anita, El Ghouzzi, Vincent, Drunat, Séverine, Passemard, Sandrine

المساهمون: Service d'imagerie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Robert Debré, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Department of Medical Genetics, Les Hôpitaux Universitaires de Strasbourg (HUS), Hôpital Femme Mère Enfant CHU - HCL (HFME), Hospices Civils de Lyon (HCL), Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal APHP, Unité fonctionnelle de génétique clinique, Istituto di Genetica Medica, Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institute of Medical Genetics, Universität Zürich Zürich = University of Zurich (UZH), ANR-16-CE16-0024,MicroGol,Implication des fonctions sécrétoires de l'appareil de Golgi dans le développement des microcéphalies postnatales avec déficit intellectuel(2016)

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BDD]Life Sciences [q-bio]/Development Biology

الاتاحة: https://hal.science/hal-02466166
https://hal.science/hal-02466166v1/document
https://hal.science/hal-02466166v1/file/Nasser%20et%20al%202020_Last%20version%20before%20copyright.pdf
https://doi.org/10.1136/jmedgenet-2019-106474

المؤلفون: Cousin, Elie, Oger, Emmanuel, Dalle, Jean-Hugues, Bertrand, Yves, Pertuisel, Sophie, Pochon, Cecile, Galambrun, Claire, Simon, Pauline, Bruno, Benedicte, Paillard, Catherine, Schneider, Pascale, Rohrlich, Pierre, de La Tour, Régis Peffault, Freycon, Claire, Eliaou, Jean-Francois, Semana, Gilbert, Jonveaux, Philippe, Drunat, Severine, Bordigoni, Pierre, Gandemer, Virginie

المصدر: Pediatric Hematology and Oncology ; volume 37, issue 3, page 259-268 ; ISSN 0888-0018 1521-0669

الاتاحة: http://dx.doi.org/10.1080/08880018.2020.1717697
https://www.tandfonline.com/doi/pdf/10.1080/08880018.2020.1717697

المؤلفون: Ayrolles, Anaël, Ellul, Pierre, Renaldo, Florence, Boespflug-Tanguy, Odile, Delorme, Richard, Drunat, Séverine, Elmaleh-Bergès, Monique, Kwon, Theresa, Rozenberg, Flore, Bondet, Vincent, Duffy, Darragh, Crow, Yanick J., Melki, Isabelle

المصدر: Schizophrenia Research ; volume 222, page 484-486 ; ISSN 0920-9964

الاتاحة: http://dx.doi.org/10.1016/j.schres.2020.05.064
https://api.elsevier.com/content/article/PII:S0920996420303443?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0920996420303443?httpAccept=text/plain

المؤلفون: Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Levy, Jonathan, Buratti, Julien, Alexandre, Mathieu, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Alain, Drunat, Séverine, Keren, Boris, Mignot, Cyril, Marey, Isabelle, Jacquette, Aurélia, Whalen, Sandra, Pipiras, Eva, Benzacken, Brigitte, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Héron, Delphine, Le Caignec, Cedric, Bénéteau, Claire, Pichon, Olivier, Isidor, Bertrand, David, Albert, El Khattabi, Laila, Kemeny, Stephan, Gouas, Laetitia, Vago, Philippe, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Missirian, Chantal, Philip, Nicole, Sanlaville, Damien, Edery, Patrick, Satre, Véronique, Coutton, Charles, Devillard, Françoise, Dieterich, Klaus, Vuillaume, Marie-Laure, Rooryck, Caroline, Lacombe, Didier, Pinson, Lucile, Gatinois, Vincent, Puechberty, Jacques, Chiesa, Jean, Lespinasse, James, Dubourg, Christèle, Quélin, Chloé, Fradin, Mélanie, Journel, Hubert, Toutain, Annick, Martin, Dominique, P., Benmansour, Abdelamdjid, Leblond, Claire, Toro, Roberto, Amsellem, Fréderique, Delorme, Richard, Bourgeron, Thomas

المساهمون: Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Département de génétique Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service Histologie-embryologie-cytogénétique, Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier AP-HP, CHU Trousseau APHP, Service de génétique médicale - Unité de génétique clinique Nantes, Université de Nantes (UN)-Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand, Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Cytogénétique Constitutionnelle Hospices civils de Lyon, Hospices Civils de Lyon (HCL), CHU de Lyon, Centre Hospitalier Universitaire CHU Grenoble (CHUGA), GIN Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes 2016-2019 (UGA 2016-2019 ), Service de génétique médicale, Université de Bordeaux (UB)-Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux)-Groupe hospitalier Pellegrin, Service de génétique médicale Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Arnaud de Villeneuve CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Hôpital Universitaire Carémeau Nîmes (CHU Nîmes), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Biomolécules Max Mousseron Pôle Chimie Balard (IBMM), Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier de Chambéry (C.H.de Chambéry), Service de génétique clinique Rennes, Université de Rennes (UR)-Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou -hôpital Sud, Génétique médicale Centre Hospitalier de Vannes, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Service de génétique Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Centre Hospitalier Le Mans (CH Le Mans), AP-HP Hôpital universitaire Robert-Debré Paris, Service Psychiatrie de l'Enfant et de l'Adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré

المصدر: EISSN: 2056-7944 ; npj Genomic Medicine ; https://hal.science/hal-02347889 ; npj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩

مصطلحات موضوعية: Neurodevelopmental disorders, Clinical genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/31285849; PUBMED: 31285849

الاتاحة: https://hal.science/hal-02347889
https://hal.science/hal-02347889v1/document
https://hal.science/hal-02347889v1/file/117978v1.full.pdf
https://doi.org/10.1038/s41525-019-0090-y