المؤلفون: Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M Natalia, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V., Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair T., Pennavaria, Ajia, Krogstad, Liv S., Bekkelund, Åse K., Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten M., Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra Hiz, Lochmuller, Hanns, Da'as, Sahar I., Fakhro, Khalid A., Gómez-Pascual, Alicia, Botía, Juan A., Wood, Nicholas W., Horvath, Rita, Ernst, Andreas M., Rothman, James E., McEntagart, Meriel, Crow, Yanick J., Alkuraya, Fowzan S., Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry

المساهمون: Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M Natalia, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V., Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair T., Pennavaria, Ajia, Krogstad, Liv S., Bekkelund, Åse K., Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten M., Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra Hiz, Lochmuller, Hanns, Da'as, Sahar I., Fakhro, Khalid A., Gómez-Pascual, Alicia, Botía, Juan A., Wood, Nicholas W., Horvath, Rita, Ernst, Andreas M., Rothman, James E., McEntagart, Meriel, Crow, Yanick J., Alkuraya, Fowzan S., Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry

Relation: EXC 2067: Multiscale Bioimaging; https://resolver.sub.uni-goettingen.de/purl?gro-2/142388; https://mbexc.uni-goettingen.de/literature/publications/922

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/142388
https://doi.org/10.1038/s41467-024-46354-0
https://mbexc.uni-goettingen.de/literature/publications/922

المؤلفون: Vandrovcová, Jana

Thesis Advisors: Netrdová, Pavlína, Havelková, Lenka

مصطلحات موضوعية: mezipředmětové vztahy, geografie, grammar school, matematika, gymnázium, výuka, interdisciplinary relations, mathematics, teaching, geography

الاتاحة: http://www.nusl.cz/ntk/nusl-406272

المؤلفون: Johansson, Lennart F., Laurie, Steve, Spalding, Dylan, Gibson, Spencer, Ruvolo, David, Thomas, Coline, Piscia, Davide, De Andrade, Fernanda, Been, Gerieke, Bijlsma, Marieke, Brunner, Han, Cimerman, Sandi, Dizjikan, Farid Yavari, Ellwanger, Kornelia, Fernandez, Marcos, Freeberg, Mallory, Van De Geijn, Gert-Jan, Kanninga, Roan, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Neerincx, Pieter, Ossowski, Stephanj, Rath, Ana, Roelofs-Prins, Dieuwke, Stok-Benjamins, Marloes, Van Der Velde, K. Joeri, Veal, Colin, Van Der Vries, Gerben, Wadsley, Marc, Warren, Gregory, Zurek, Birte, Keane, Thomas, Graessner, Holm, Beltran, Sergi, Swertz, Morris A, Brookes, Anthony J., Riess, Olaf, Haack, Tobias B., Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Kellner, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, 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, Te Paske, Iris, Janssen, Erik, De Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Riaz, Umar, Warren, Greg, 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, Gut, Ivo Glynne, Laurie, Steven, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, 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, Dolealová, Pavla, Parkinson, Helen, 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, Garcia-Pelaez, Jose, Barbosa-Matos, Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Van Der Velde, Joeri K., Abbott, Kristin M., Frederikse, Wilhemina S. Kerstjens, Zonneveld-Huijssoon, Eveline, 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, EstrellaLópez, 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 Nazll, 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, Isabell, 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: Johansson, Lennart F., Laurie, Steve, Spalding, Dylan, Gibson, Spencer, Ruvolo, David, Thomas, Coline, Piscia, Davide, De Andrade, Fernanda, Been, Gerieke, Bijlsma, Marieke, Brunner, Han, Cimerman, Sandi, Dizjikan, Farid Yavari, Ellwanger, Kornelia, Fernandez, Marco, Freeberg, Mallory, Van De Geijn, Gert-Jan, Kanninga, Roan, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Neerincx, Pieter, Ossowski, Stephanj, Rath, Ana, Roelofs-Prins, Dieuwke, Stok-Benjamins, Marloe, Van Der Velde, K. Joeri, Veal, Colin, Van Der Vries, Gerben, Wadsley, Marc, Warren, Gregory, Zurek, Birte, Keane, Thoma, Graessner, Holm, Beltran, Sergi, Swertz, Morris A, Brookes, Anthony J., Riess, Olaf, Haack, Tobias B., Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Kellner, Melanie, Synofzik, Matthi, Wilke, Carlo, Traschütz, Andrea, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Scheffer, Han, Hoogerbrugge, Nicoline, Hoischen, Alexander, Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karoli, De Voer, Richarda M., Kamsteeg, Erik-Jan, Van De Warrenburg, Bart, Van Os, Nienke, Te Paske, Iri, Janssen, Erik, De Boer, Elke, Steehouwer, Marloe, Yaldiz, Burcu, Kleefstra, Tjitske, Riaz, Umar, Warren, Greg, Shorter, Thoma, 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, Yanni, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Gut, Ivo Glynne, Laurie, Steven, Matalonga, Leslie, Papakonstantinou, Anastasio, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marco, Hernández, Carle

مصطلحات موضوعية: bioinformatic, computational biology, fair data, genetic, infrastructure, rare disease

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/39302238; info:eu-repo/semantics/altIdentifier/wos/WOS:001350076800001; volume:13; numberofpages:14; journal:GIGASCIENCE; https://hdl.handle.net/11365/1277024; https://pmc.ncbi.nlm.nih.gov/articles/PMC11413801/

الاتاحة: https://hdl.handle.net/11365/1277024
https://doi.org/10.1093/gigascience/giae058
https://academic.oup.com/gigascience/article/doi/10.1093/gigascience/giae058/7762471?login=true
https://pmc.ncbi.nlm.nih.gov/articles/PMC11413801/

المؤلفون: Benkirane, Mehdi, Bonhomme, Marion, Morsy, Heba, Safgren, Stephanie, L, Marelli, Cecilia, Chaussenot, Annabelle, Smedley, Damian, Cipriani, Valentina, de Sainte-Agathe, Jean-Madeleine, Ding, Can, Larrieu, Lise, Vestito, Letizia, Margot, Henri, Lesca, Gaetan, Ramond, Francis, Castrioto, Anna, Baux, David, Verheijen, Jan, Sansa, Emna, Giunti, Paola, Haetty, Aline, Bergougnoux, Anne, Pointaux, Morgane, Ardouin, Olivier, van Goethem, Charles, Vincent, Marie-Claire, Hadjivassiliou, Marios, Cossée, Mireille, Rouaud, Tiphaine, Bartsch, Oliver, Freeman, William, D, Wierenga, Klaas, J, Klee, Eric, W, Vandrovcova, Jana, Houlden, Henry, Debant, Anne, Koenig, Michel

المساهمون: Mécanismes moléculaires dans les démences neurodégénératives (MMDN), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Universitaire de Recherche Clinique (IURC Montpellier), Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Centre Hospitalier Universitaire de Saint-Etienne CHU Saint-Etienne (CHU ST-E), GIN Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Centre de recherche en Biologie cellulaire de Montpellier (CRBM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: cause spastic ataxia TUBA4A monoallelic variants cause spastic ataxia Ataxia TUBA4A Spasticity, De novo Tubulinopathy, Cerebellar atrophy Amyotrophic Lateral Sclerosis CCAS: Cerebellar Cognitive and Affective Syndrome FTD: Fronto-Temporal Dementia. HA: Hereditary Ataxia HSP: Hereditary Spastic Paraplegia LMN: Lower motor neuron MAP: Microtubule Associated Protein MT: Microtubules MSP: Multiple Systemic Proteinopathy PTM: Post-Translational Modifications PLS: Primary Lateral Sclerosis UMN: Upper motor neuron, cause spastic ataxia TUBA4A monoallelic variants cause spastic ataxia Ataxia, TUBA4A, Spasticity, De novo, Tubulinopathy, Cerebellar atrophy Amyotrophic Lateral Sclerosis, CCAS: Cerebellar Cognitive and Affective Syndrome, FTD: Fronto-Temporal Dementia. HA: Hereditary Ataxia, HSP: Hereditary Spastic Paraplegia, LMN: Lower motor neuron, MAP: Microtubule Associated Protein, MT: Microtubules, MSP: Multiple Systemic Proteinopathy, PTM: Post-Translational Modifications, PLS: Primary Lateral Sclerosis, UMN: Upper motor neuron, [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04795703
https://hal.science/hal-04795703v1/document
https://hal.science/hal-04795703v1/file/benkirane%20et%20al%202024.pdf
https://doi.org/10.1093/brain/awae193

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: Wijngaard, Robin, Demidov, German, O'Gorman, Luke, Corominas-Galbany, Jordi, Yaldiz, Burcu, Steyaert, Wouter, de Boer, Elke, Vissers, Lisenka E. L. M., Kamsteeg, Erik-Jan, Pfundt, Rolph, Swinkels, Hilde, den Ouden, Amber, te Paske, Iris B. A. W., de Voer, Richarda M., Faivre, Laurence, Denomme-Pichon, Anne-Sophie, Duffourd, Yannis, Vitobello, Antonio, Chevarin, Martin, Straub, Volker, Toepf, Ana, van der Kooi, Anneke J., Magrinelli, Francesca, Rocca, Clarissa, Hanna, Michael G., Vandrovcova, Jana, Ossowski, Stephan, Laurie, Steven, Gilissen, Christian

المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS ; ISSN: 1018-4813 ; ISSN: 1476-5438

مصطلحات موضوعية: Medicine and Health Sciences, RETROTRANSPOSITION, GERMLINE

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01J8QR1536B70F9XW5PN5ATNGE; https://biblio.ugent.be/publication/01J8QR1536B70F9XW5PN5ATNGE/file/01JAW4SV8ZAFNQD93A3X2T0NAS

الاتاحة: https://biblio.ugent.be/publication/01J8QR1536B70F9XW5PN5ATNGE
http://hdl.handle.net/1854/LU-01J8QR1536B70F9XW5PN5ATNGE
https://doi.org/10.1038/s41431-023-01478-7
https://biblio.ugent.be/publication/01J8QR1536B70F9XW5PN5ATNGE/file/01JAW4SV8ZAFNQD93A3X2T0NAS

المؤلفون: Bisschoff, Michelle, Smuts, Izelle, Dercksen, Marli, Schoonen, Maryke, Vorster, Barend C., Van der Watt, George, Spencer, Careni, Naidu, Kireshnee, Henning, Franclo, Meldau, Surita, McFarland, Robert, Taylor, Robert W., Patel, Krutik, Fassad, Mahmoud R., Vandrovcova, Jana, Wanders, Ronald J.A., Van der Westhuizen, Francois H.

مصطلحات موضوعية: Multiple acyl-CoA dehydrogenase deficiency (MADD), Electron transfer flavoprotein-ubiquinone oxidoreductase gene (ETFDH), South Africa (SA), Glutaric aciduria type II, Riboflavin, International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD)

وصف الملف: application/pdf

Relation: Bisschoff, M., Smuts, I., Dercksen, M. et al. Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet Journal of Rare Diseases 19, 15 (2024). https://doi.org/10.1186/s13023-023-03014-8.; 1750-1172 (online); http://hdl.handle.net/2263/94131

الاتاحة: http://hdl.handle.net/2263/94131
https://doi.org/10.1186/s13023-023-03014-8

المؤلفون: Ibanez, Kristina, Jadhav, Bharati, Zanovello, Matteo, Gagliardi, Delia, Clarkson, Christopher, Facchini, Stefano, Garg, Paras, Martin-Trujillo, Alejandro, Gies, Scott, Galassi Deforie, Valentina, Dalmia, Anupriya, Hensman Moss, Davina J, Vandrovcova, Jana, Rocca, Clarissa, Moutsianas, Loukas, Marini-Bettolo, Chiara, Walker, Helen, Turner, Chris, Shoai, Maryam, Long, Jeffrey, EUROSCA network, Fratta, Pietro, Langbehn, Douglas, Tabrizi, Sarah, Caulfield, Mark, Cortese, Andrea, Escott-Price, Valentina, hardy, John, Houlden, Henry, Sharp, Andrew, Tucci, Arianna

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/170838/6/s41591-024-03190-5.pdf; Ibanez, Kristina, Jadhav, Bharati, Zanovello, Matteo, Gagliardi, Delia, Clarkson, Christopher, Facchini, Stefano, Garg, Paras, Martin-Trujillo, Alejandro, Gies, Scott, Galassi Deforie, Valentina, Dalmia, Anupriya, Hensman Moss, Davina J, Vandrovcova, Jana, Rocca, Clarissa, Moutsianas, Loukas, Marini-Bettolo, Chiara, Walker, Helen, Turner, Chris, Shoai, Maryam, Long, Jeffrey, EUROSCA network, Fratta, Pietro, Langbehn, Douglas, Tabrizi, Sarah, Caulfield, Mark, Cortese, Andrea, Escott-Price, Valentina https://orca.cardiff.ac.uk/view/cardiffauthors/A015705M.html orcid:0000-0003-1784-5483 orcid:0000-0003-1784-5483, hardy, John, Houlden, Henry, Sharp, Andrew and Tucci, Arianna 2024. Increased frequency of repeat expansion mutations across different populations. Nature Medicine 10.1038/s41591-024-03190-5 https://doi.org/10.1038/s41591-024-03190-5 file https://orca.cardiff.ac.uk/id/eprint/170838/6/s41591-024-03190-5.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/170838/
https://doi.org/10.1038/s41591-024-03190-5

المؤلفون: Yau, Wai Yan, Ashton, Catherine, Mulroy, Eoin, Foltynie, Thomas, Limousin, Patricia, Vandrovcova, Jana, Verma, Kunal P, Stell, Rick, Davis, Mark, Lamont, Phillipa

المصدر: Annals of Clinical and Translational Neurology (2024) (In press).

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10192451/1/Ann%20Clin%20Transl%20Neurol%20-%202024%20-%20Yau%20-%20POLR3A%20related%20disorders.pdf; https://discovery.ucl.ac.uk/id/eprint/10192451/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10192451/1/Ann%20Clin%20Transl%20Neurol%20-%202024%20-%20Yau%20-%20POLR3A%20related%20disorders.pdf
https://discovery.ucl.ac.uk/id/eprint/10192451/

المؤلفون: Vandersteen, Anthony M, Weerakkody, Ruwan A, Parry, David A, Kanonidou, Christina, Toddie-Moore, Daniel J, Vandrovcova, Jana, Darlay, Rebecca, Santoyo-Lopez, Javier, Meynert, Alison, NIHR BioResource, Kazkaz, Hanadi, Grahame, Rodney, Cummings, Carole, Bartlett, Marion, Ghali, Neeti, Brady, Angela F, Pope, F Michael, van Dijk, Fleur S, Cordell, Heather J, Aitman, Timothy J

مصطلحات موضوعية: Genotype-phenotype correlations

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/61/3/232; http://dx.doi.org/10.1136/jmg-2023-109329

الاتاحة: http://jmg.bmj.com/cgi/content/short/61/3/232
https://doi.org/10.1136/jmg-2023-109329

المؤلفون: Henning, Franclo, Naidu, Kireshnee, Record, Christopher J., Dominik, Natalia, Vandrovcova, Jana, Lubbe, Frans, Dercksen, Marli, Wilson, Lindsay A., Van Der Westhuizen, Francois, Reilly, Mary M., Houlden, Henry, Hanna, Michael G., Carr, Jonathan

المساهمون: Wellcome Trust, Muscular Dystrophy Association, Medical Research Foundation

المصدر: Movement Disorders Clinical Practice ; ISSN 2330-1619 2330-1619

الاتاحة: http://dx.doi.org/10.1002/mdc3.14178

المؤلفون: Gao, Fei, Schon, Katherine R., Vandrovcova, Jana, Wilson, Lindsay, Hanna, Michael G., Çavdarlı, Büşranur, Heckmann, Jeannine, Chinnery, Patrick F., Horvath, Rita

المساهمون: National Institute for Health and Care Research, Wellcome Trust, Evelyn Trust, Lily Foundation, NIHR Cambridge Biomedical Research Centre

المصدر: Annals of Clinical and Translational Neurology ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.52141
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.52141

المؤلفون: Alvarez Jerez, Pilar, Daida, Kensuke, Miano-Burkhardt, Abigail, Iwaki, Hirotaka, Malik, Laksh, Cogan, Guillaume, Makarious, Mary B., Sullivan, Roisin, Vandrovcova, Jana, Ding, Jinhui, Gibbs, J. Raphael, Markham, Androo, Nalls, Mike A., Kesharwani, Rupesh K., Sedlazeck, Fritz J., Casey, Bradford, Hardy, John, Houlden, Henry, Blauwendraat, Cornelis, Singleton, Andrew B., Billingsley, Kimberley J.

المصدر: npj Parkinson's Disease ; volume 10, issue 1 ; ISSN 2373-8057

الاتاحة: http://dx.doi.org/10.1038/s41531-024-00723-0
https://www.nature.com/articles/s41531-024-00723-0.pdf
https://www.nature.com/articles/s41531-024-00723-0

المؤلفون: Winsvold, Bendik S, Harder, Aster V E, Ran, Caroline, Chalmer, Mona A, Dalmasso, Maria Carolina, Ferkingstad, Egil, Tripathi, Kumar Parijat, Bacchelli, Elena, Børte, Sigrid, Fourier, Carmen, Petersen, Anja S, Vijfhuizen, Lisanne S, Magnusson, Sigurdur H, O'Connor, Emer, Bjornsdottir, Gyda, Häppölä, Paavo, Wang, Yen-Feng, Callesen, Ida, Kelderman, Tim, Gallardo, Victor J, de Boer, Irene, Olofsgård, Felicia Jennysdotter, Heinze, Katja, Lund, Nunu, Thomas, Laurent F, Hsu, Chia-Lin, Pirinen, Matti, Hautakangas, Heidi, Ribasés, Marta, Guerzoni, Simona, Sivakumar, Prasanth, Yip, Janice, Heinze, Axel, Küçükali, Fahri, Ostrowski, Sisse R, Pedersen, Ole B, Kristoffersen, Espen S, Martinsen, Amy E, Artigas, María S, Lagrata, Susie, Cainazzo, Maria Michela, Adebimpe, Joycee, Quinn, Olivia, Göbel, Carl, Cirkel, Anna, Volk, Alexander E, Heilmann-Heimbach, Stefanie, Skogholt, Anne Heidi, Gabrielsen, Maiken E, Wilbrink, Leopoldine A, Danno, Daisuke, Mehta, Dwij, Guðbjartsson, Daníel F, Rosendaal, Frits R, Willems van Dijk, Ko, Fronczek, Rolf, Wagner, Michael, Scherer, Martin, Göbel, Hartmut, Sleegers, Kristel, Sveinsson, Olafur A, Pani, Luca, Zoli, Michele, Ramos-Quiroga, Josep A, Dardiotis, Efthimios, Steinberg, Anna, Riedel-Heller, Steffi, Sjöstrand, Christina, Thorgeirsson, Thorgeir E, Stefansson, Hreinn, Southgate, Laura, Trembath, Richard C, Vandrovcova, Jana, Noordam, Raymond, Paemeleire, Koen, Stefansson, Kari, Fann, Cathy Shen-Jang, Waldenlind, Elisabet, Tronvik, Erling, Jensen, Rigmor H, Chen, Shih-Pin, Houlden, Henry, Terwindt, Gisela M, Kubisch, Christian, Maestrini, Elena, Vikelis, Michail, Pozo-Rosich, Patricia, Belin, Andrea C, Matharu, Manjit, van den Maagdenberg, Arn M J M, Hansen, Thomas F, Ramirez, Alfredo, Zwart, John-Anker

المساهمون: Winsvold, Bendik S, Harder, Aster V E, Ran, Caroline, Chalmer, Mona A, Dalmasso, Maria Carolina, Ferkingstad, Egil, Tripathi, Kumar Parijat, Bacchelli, Elena, Børte, Sigrid, Fourier, Carmen, Petersen, Anja S, Vijfhuizen, Lisanne S, Magnusson, Sigurdur H, O'Connor, Emer, Bjornsdottir, Gyda, Häppölä, Paavo, Wang, Yen-Feng, Callesen, Ida, Kelderman, Tim, Gallardo, Victor J, de Boer, Irene, Olofsgård, Felicia Jennysdotter, Heinze, Katja, Lund, Nunu, Thomas, Laurent F, Hsu, Chia-Lin, Pirinen, Matti, Hautakangas, Heidi, Ribasés, Marta, Guerzoni, Simona, Sivakumar, Prasanth, Yip, Janice, Heinze, Axel, Küçükali, Fahri, Ostrowski, Sisse R, Pedersen, Ole B, Kristoffersen, Espen S, Martinsen, Amy E, Artigas, María S, Lagrata, Susie, Cainazzo, Maria Michela, Adebimpe, Joycee, Quinn, Olivia, Göbel, Carl, Cirkel, Anna, Volk, Alexander E, Heilmann-Heimbach, Stefanie, Skogholt, Anne Heidi, Gabrielsen, Maiken E, Wilbrink, Leopoldine A, Danno, Daisuke, Mehta, Dwij, Guðbjartsson, Daníel F, Rosendaal, Frits R, Willems van Dijk, Ko, Fronczek, Rolf, Wagner, Michael, Scherer, Martin, Göbel, Hartmut, Sleegers, Kristel, Sveinsson, Olafur A, Pani, Luca, Zoli, Michele, Ramos-Quiroga, Josep A, Dardiotis, Efthimio, Steinberg, Anna, Riedel-Heller, Steffi, Sjöstrand, Christina, Thorgeirsson, Thorgeir E, Stefansson, Hreinn, Southgate, Laura, Trembath, Richard C, Vandrovcova, Jana, Noordam, Raymond, Paemeleire, Koen, Stefansson, Kari, Fann, Cathy Shen-Jang, Waldenlind, Elisabet, Tronvik, Erling, Jensen, Rigmor H, Chen, Shih-Pin, Houlden, Henry, Terwindt, Gisela M, Kubisch, Christian, Maestrini, Elena, Vikelis, Michail, Pozo-Rosich, Patricia, Belin, Andrea C, Matharu, Manjit, van den Maagdenberg, Arn M J M, Hansen, Thomas F, Ramirez, Alfredo, Zwart, John-Anker

مصطلحات موضوعية: genomewide association study meta-analysis cluster headache smoking Mendelian randomization genetic risk variants

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37486023; info:eu-repo/semantics/altIdentifier/wos/WOS:001049965200001; volume:94; issue:4; firstpage:713; lastpage:726; numberofpages:14; journal:ANNALS OF NEUROLOGY; https://hdl.handle.net/11585/952440; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85167330217

الاتاحة: https://hdl.handle.net/11585/952440
https://doi.org/10.1002/ana.26743

المؤلفون: Bearden, David R, Wa Somwe, Somwe, Nandeesh, Bevinahalli N, Narayanappa, Gayathri, van der Maarel, Silvère M, Govindaraj, Periyasamy, Tallapaka, Karthik B, Nagappa, Madhu, Ceylan, Gülay Güleç, Semerci Gündüz, C Nur, Çavdarlı, Büşranur, Ceylan, Ahmet Cevdet, van der Vliet, Patrick J, Mahungu, Amokelani C, Steyn, Elizabeth C, Trainor, Christina I, Töpf, Ana, Mishra, Rinkle, Reyaz, Alisha, Lemmers, Richard J L F, Srivastava, Kosha, Nashi, Saraswati, Vengalil, Seena, Nonyane, Malebo, Lubbe, Elsa, Human, Ronel, Jonvik, Hallgeir, Vorster, Armand, Bisschoff, Michelle, Schoonen, Maryke, Dalal, Ashwin, Bhatia, Rohit, Marques, Wilson, Tomaselli, Pedro J, Sobreira, Claudia Ferreira da Rosa, van der Westhuizen, Francois H, Smuts, Izelle, Taylor, Robert W, McFarland, Robert, Heckmann, Jeannine M, Patel, Krutik, Wilmshurst, Jo M, Henning, Franclo, Bugiardini, Enrico, Sarkozy, Anna, Topaloğlu, Haluk, Srivastava, M V Padma, Frezatti, Rodrigo S S, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert D S, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G, Polat, Ipek, Oktay, YAVUZ, Hiz, AYŞE SEMRA, Yiş, ULUÇ, Ramdharry, Gita M, Kvalsund, Michelle P, Dominik, Natalia, Kapapa, Musambo M, Köken, Özlem Yayıcı, Naidu, Kireshnee, Raga, Sharika, Schon, Katherine R, Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Gao, Fei, Fassad, Mahmoud R, Nel, Melissa, Morsy, Heba, Efthymiou, Stephanie

Relation: 75d283da-3da5-4981-9dc4-c9975e87960c; https://avesis.deu.edu.tr/publication/details/75d283da-3da5-4981-9dc4-c9975e87960c/oai

الاتاحة: https://doi.org/10.1093/brain/awad254
https://avesis.deu.edu.tr/publication/details/75d283da-3da5-4981-9dc4-c9975e87960c/oai

المؤلفون: Guelfi, Sebastian, D’Sa, Karishma, Botía, Juan A., Vandrovcova, Jana, Reynolds, Regina H., Zhang, David, Mir Rivera, Pablo, Labrador-Espinosa, Miguel Á., Periñán Tocino, María Teresa

المساهمون: Universidad de Sevilla. Departamento de Medicina, Alzheimer's Research UK, Leonard Wolfson Doctoral Training Fellowship in Neurodegeneration, MRC, UK Medical Research Council (MRC), MR/N008324/1

Relation: Nature Communications, 11 (1).; ARUK-PhD2014-16; MR/T04604X/1; UKDRI-3003; MR/N026004/1; MR/L023784/2; MR/K01417X/1; UKDRI-1009; MR/S006753/1; https://www.nature.com/articles/s41467-020-14483-x; https://idus.us.es/handle//11441/143835

الاتاحة: https://idus.us.es/handle//11441/143835

المؤلفون: Morsy, Heba, Benkirane, Mehdi, Cali, Elisa, Rocca, Clarissa, Zhelcheska, Kristina, Cipriani, Valentina, Galanaki, Evangelia, Maroofian, Reza, Efthymiou, Stephanie, O'Driscoll, Mary, Suri, Mohnish, Banka, Siddharth, Clayton-Smith, Jill, Redman, Melody, Bassetti, Jennifer A, Nizon, Mathilde, Cogne, Benjamin, Jamra, Rami Abu, Bartolomaeus, Tobias, Heruth, Marion, Krey, Ilona, Gburek-Augustat, Janina, Wieczorek, Dagmar, Gattermann, Felix, Mcentagart, Meriel, Goldenberg, Alice, Guyant-Marechal, Lucie, Garcia-Moreno, Hector, Giunti, Paola, Chabrol, Brigitte, Bacrot, Severine, Buissonnière, Roger, Magry, Virginie, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Melegh, Béla, Szabó, András, Sümegi, Katalin, Cossée, Mireille, Ziff, Monica, Butterfield, Russell, Hunt, David, Bird-Lieberman, Georgina, Hanna, Michael, Koenig, Michel, Stankewich, Michael, Vandrovcova, Jana, Houlden, Henry

المصدر: Queen Square Genomics , Genomics England Research Consortium , Morsy , H , Benkirane , M , Cali , E , Rocca , C , Zhelcheska , K , Cipriani , V , Galanaki , E , Maroofian , R , Efthymiou , S , O'Driscoll , M , Suri , M , Banka , S , Clayton-Smith , J , Redman , M , Bassetti , J A , Nizon , M , Cogne , B , Jamra , R A , Bartolomaeus , T , Heruth , M , Krey , I , Gburek-Augustat , J , ....

مصطلحات موضوعية: Developmental delay, Developmental epileptic encephalopathy, Hereditary ataxia, Hereditary spastic paraplegia, SPTAN1

Relation: https://research.manchester.ac.uk/en/publications/28634271-3bc9-451b-8e3e-b58d3eec9489

الاتاحة: https://research.manchester.ac.uk/en/publications/28634271-3bc9-451b-8e3e-b58d3eec9489
https://doi.org/10.1016/j.gim.2022.09.013
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:000920292500001&DestLinkType=FullRecord&DestApp=WOS
http://www.scopus.com/inward/record.url?scp=85143658828&partnerID=8YFLogxK
https://www.mendeley.com/catalogue/49c0b4c6-3947-3f05-bc51-5ceb9217d866/

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