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: Eggenhuizen, Geerke M., Go, Attie T. J. I., Hoffer, Mariette J. V., Goedegebuur-Zwalua, Eveline, Srebniak, Malgorzata I., Van Opstal, Diane

المصدر: Eggenhuizen , G M , Go , A T J I , Hoffer , M J V , Goedegebuur-Zwalua , E , Srebniak , M I & Van Opstal , D 2024 , ' Confined Placental Mosaicism Detected With Non-Invasive Prenatal Testing : Is There an Association Between Mosaic Ratio and Pregnancy Outcome? ' , Prenatal Diagnosis , vol. 44 , no. 12 , pp. 1462-1469 . https://doi.org/10.1002/pd.6680

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/9b9abf0e-7983-4ce6-90ae-d73d664d3b85
https://doi.org/10.1002/pd.6680
https://pure.eur.nl/ws/files/170963085/Confined_Placental_Mosaicism_Detected_With_Non-Invasive_Prenatal_Testing.pdf
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=eur_pure&SrcAuth=WosAPI&KeyUT=WOS:001329715100001&DestLinkType=FullRecord&DestApp=WOS_CPL

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: Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K M, Rooney, Kathleen, Levy, Michael A, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M, Vissers, Lisenka E L M, de Vries, Bert B A, Pfundt, Rolph, Elting, Mariet W, van Hagen, Johanna M, Verbeek, Nienke E, Jongmans, Marjolijn C J, Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G M, Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E, Ounap, Katrin, Hoffer, Mariëtte J V, Nezarati, Marjan M, van den Boogaard, Marie-José H, Tedder, Matthew L, Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B, Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J, Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A M, Stuurman, Kyra E, Mannens, Marcel M A M, Alders, Mariëlle, Henneman, Peter, White, Susan M, Sadikovic, Bekim, van Haelst, Mieke M

المساهمون: Genetica Klinische Genetica, Cancer, Child Health

مصطلحات موضوعية: Genetics(clinical), Genetics, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/453461

الاتاحة: https://dspace.library.uu.nl/handle/1874/453461

المؤلفون: Eggenhuizen, Geerke M., Go, Attie T. J. I., Sauter, Zoe, Hoffer, Mariette J. V., Haak, Monique C., Geeven, Geert, Diderich, Karin E. M., Joosten, Marieke, van den Born, Myrthe, Srebniak, Malgorzata I., Van Opstal, Diane

المصدر: Eggenhuizen , G M , Go , A T J I , Sauter , Z , Hoffer , M J V , Haak , M C , Geeven , G , Diderich , K E M , Joosten , M , van den Born , M , Srebniak , M I & Van Opstal , D 2024 , ' The role of confined placental mosaicism in fetal growth restriction : A retrospective cohort study ' , Prenatal Diagnosis , vol. 44 , no. 3 , pp. 289-296 . https://doi.org/10.1002/pd.6533

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/91f527ef-f45a-4af2-abf5-6073db016d18
https://doi.org/10.1002/pd.6533
https://pure.eur.nl/ws/files/136771016/Prenatal_Diagnosis_-_2024_-_Eggenhuizen_-_The_role_of_confined_placental_mosaicism_in_fetal_growth_restriction_A.pdf
http://www.scopus.com/inward/record.url?scp=85185141265&partnerID=8YFLogxK

المؤلفون: van der Laan, Liselot, Rooney, Kathleen, Alders, Mariëlle, Relator, Raissa, Mcconkey, Haley, Kerkhof, Jennifer, Levy, Michael, A, Lauffer, Peter, Aerden, Mio, Theunis, Miel, Legius, Eric, Tedder, Matthew, L, Vissers, Lisenka, E L M, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, J V, Wieczorek, Dagmar, Bramswig, Nuria, C, Herget, Theresia, González, Vanesa, López, Santos-Simarro, Fernando, Tørring, Pernille, M, Denomme-Pichon, Anne-Sophie, Isidor, Bertrand, Keren, Boris, Julia, Sophie, Schaefer, Elise, Francannet, Christine, Maillard, Pierre-Yves, Misra-Isrie, Mala, van Esch, Hilde, Mannens, Marcel, M a M, Sadikovic, Bekim, van Haelst, Mieke, M, Henneman, Peter

المساهمون: Amsterdam University Medical Centers (Amsterdam UMC), Western University London, ON, Canada, Amsterdam UMC - Amsterdam University Medical Center, Emma Children’s Hospital, Centre for Human Genetics, University Hospitals Leuven, Catholic University of Leuven, The Greenwood Genetic Center, Radboud University Medical Center Nijmegen, Department of Clinical Genetics (Leiden University Medical Center), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University -Universiteit Leiden = Leiden University, Heinrich Heine Universität Düsseldorf = Heinrich Heine University Düsseldorf, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Hospital Clínico Universitario Virgen de la Arrixaca = University Hospital Virgen de la Arrixaca Murcia, Hospital Universitario La Paz, Odense University Hospital (OUH), Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique médicale CHU Nantes, Centre hospitalier universitaire de Nantes (CHU Nantes), Sorbonne Université (SU), Centre d'Epidémiologie et de Recherche en santé des POPulations (CERPOP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Génétique Médicale CHU Toulouse, Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Génétique Médicale CHU Clermont-Ferrand, CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand-CHU Clermont-Ferrand, Institut Jérôme Lejeune

المصدر: ISSN: 1661-6596.

مصطلحات موضوعية: TRIP12, Clark–Baraitser syndrome, intellectual disability, DNA methylation, episignature, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/36430143; hal-04098955; https://hal.science/hal-04098955; https://hal.science/hal-04098955/document; https://hal.science/hal-04098955/file/VanderLaan-2022.pdf; PUBMED: 36430143

الاتاحة: https://hal.science/hal-04098955
https://hal.science/hal-04098955/document
https://hal.science/hal-04098955/file/VanderLaan-2022.pdf
https://doi.org/10.3390/ijms232213664

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: Heesterbeek, Catharina J, Aukema, Sietse M, Galjaard, Robert-Jan H, Boon, Elles M J, Srebniak, Malgorzata I, Bouman, Katelijne, Faas, Brigitte H W, Govaerts, Lutgarde C P, Hoffer, Mariëtte J V, den Hollander, Nicolette S, Lichtenbelt, Klaske D, van Maarle, Merel C, van Prooyen Schuurman, Lisanne, van Rij, Maartje C, Schuring-Blom, G Heleen, Stevens, Servi J C, Tan-Sindhunata, Gita, Zamani Esteki, Masoud, de Die-Smulders, Christine E M, Tjan-Heijnen, Vivianne C G, Henneman, Lidewij, Sistermans, Erik A, Macville, Merryn V E

المصدر: Dutch NIPT Consortium , Heesterbeek , C J , Aukema , S M , Galjaard , R-J H , Boon , E M J , Srebniak , M I , Bouman , K , Faas , B H W , Govaerts , L C P , Hoffer , M J V , den Hollander , N S , Lichtenbelt , K D , van Maarle , M C , van Prooyen Schuurman , L , van Rij , M C , Schuring-Blom , G H , Stevens , S J C , Tan-Sindhunata , G , Zamani Esteki , ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/b9858dcd-c6ac-42ea-80ee-5ac7418f4648
https://research.rug.nl/en/publications/b9858dcd-c6ac-42ea-80ee-5ac7418f4648
https://doi.org/10.1200/JCO.21.02260
https://pure.rug.nl/ws/files/223541513/Noninvasive_Prenatal_Test_Results_Indicative_of_Maternal_Malignancies_A_Nationwide_Genetic_and_Clinical_Follow_Up_Study.pdf

المؤلفون: van Prooyen Schuurman, Lisanne, Sistermans, Erik A, Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N, Bax, Caroline J, Pieters, Mijntje J, Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S, Diderich, Karin E M, Faas, Brigitte H W, Feenstra, Ilse, Go, Attie T J I, Hoffer, Mariëtte J V, Joosten, Marieke, Komdeur, Fenne L, Lichtenbelt, Klaske D, Lombardi, Maria P, Polak, Marike G, Jehee, Fernanda S, Schuring-Blom, Heleen, Stevens, Servi J C, Srebniak, Malgorzata I, Suijkerbuijk, Ron F, Tan-Sindhunata, Gita M, van der Meij, Karuna R M, van Maarle, Merel C, Vernimmen, Vivian, van Zelderen-Bhola, Shama L, van Ravesteyn, Nicolien T, Knapen, Maarten F C M, Macville, Merryn V E, Galjaard, R. H.

المصدر: van Prooyen Schuurman , L , Sistermans , E A , Van Opstal , D , Henneman , L , Bekker , M N , Bax , C J , Pieters , M J , Bouman , K , de Munnik , S , den Hollander , N S , Diderich , K E M , Faas , B H W , Feenstra , I , Go , A T J I , Hoffer , M J V , Joosten , M , Komdeur , F L , Lichtenbelt , K D , Lombardi , M P , Polak ....

مصطلحات موضوعية: Cohort Studies, Female, Follow-Up Studies, Humans, Mosaicism, Placenta, Pregnancy, Prenatal Diagnosis/methods, Trisomy, PREECLAMPSIA, CELL-FREE DNA

Relation: https://cris.maastrichtuniversity.nl/en/publications/8bfa71a8-d75c-4222-ab09-35aaef725852

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/8bfa71a8-d75c-4222-ab09-35aaef725852
https://doi.org/10.1016/j.ajhg.2022.04.018

المؤلفون: Cappuccio, Gerarda, Brillante, Simona, Tammaro, Roberta, Pinelli, Michele, De Bernardi, Margherita Lucia, Gensini, Maria Grazia, Bijlsma, Emilia K., Koopmann, Tamara T., Hoffer, Mariette J. V., McDonald, Kimberly, Hendon, Laura G., Douzgou, Sofia, Deshpande, Charulata, D'Arrigo, Stefano, Torella, Annalaura, Nigro, Vincenzo, Franco, Brunella, Brunetti‐Pierri, Nicola

المساهمون: Fondazione Telethon, Wellcome Trust

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 190, issue 1, page 102-108 ; ISSN 1552-4868 1552-4876

الاتاحة: http://dx.doi.org/10.1002/ajmg.c.31973
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31973
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.c.31973

المؤلفون: Koene, Saskia, Knijnenburg, Jeroen, Hoffer, Mariette J. V., Zwanenburg, Fleur, Haak, Monique C., Locher, Heiko, van Beelen, Edward S. A., Santen, Gijs W. E., Rotteveel, Liselotte J. C.

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 5, page 1578-1582 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62669
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62669
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62669

المؤلفون: Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Dalla Bernardina, Bernardo, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette J V, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs W E, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, Eichler, Evan E

المساهمون: Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvi, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chri, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, Mckenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Dalla Bernardina, Bernardo, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette J V, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs W E, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnu, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, Eichler, Evan E

مصطلحات موضوعية: Autism spectrum disorders, Mutation, Neurodevelopmental disorders, Next-generation sequencing

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/33004838; info:eu-repo/semantics/altIdentifier/wos/WOS:000577113300012; volume:11; issue:4932; firstpage:1; lastpage:13; numberofpages:13; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11562/1026606; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85091936481; https://doi.org/10.1038/s41467-020-18723-y

الاتاحة: http://hdl.handle.net/11562/1026606
https://doi.org/10.1038/s41467-020-18723-y

المؤلفون: de Groot-van der Mooren, Maurike, de Graaf, Gert, Weijerman, Michel E, Hoffer, Mariette J V, Knijnenburg, Jeroen, van der Kevie-Kersemaekers, Anne-Marie M F, Kooper, Angelique J A, Voorhoeve, Els, Sikkema-Raddatz, Birgit, van Zutven, Laura J C M, Srebniak, Malgorzata Ilona, Huijsdens-van Amsterdam, Karin, Engelen, John J M, Smeets, Dominique, van Kaam, Anton H, Cornel, Martina C

المساهمون: Genetica Sectie Genoomdiagnostiek

مصطلحات موضوعية: Adult, Down Syndrome/diagnostic imaging, Female, Humans, Live Birth/epidemiology, Netherlands/epidemiology, Noninvasive Prenatal Testing/methods, Pregnancy, Prevalence, Registries/statistics & numerical data, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/456360

الاتاحة: https://dspace.library.uu.nl/handle/1874/456360

المؤلفون: Srebniak, Malgorzata I., Jehee, Fernanda S., Joosten, Marieke, Boter, Marjan, de Valk, Walter G., van der Helm, Robert, Sistermans, Erik A., Voorhoeve, Els, Bhola, Shama, Hoffer, Mariette J. V., den Hollander, Nicolette, Macville, Merryn V. E., van Opstal, Diane

المصدر: Srebniak , M I , Jehee , F S , Joosten , M , Boter , M , de Valk , W G , van der Helm , R , Sistermans , E A , Voorhoeve , E , Bhola , S , Hoffer , M J V , den Hollander , N , Macville , M V E & van Opstal , D 2021 , ' Non-invasive prenatal diagnosis for translocation carriers—YES please or NO go? ' , Acta Obstetricia et Gynecologica Scandinavica , vol. 100 , no. 11 , pp. 2036-2043 . https://doi.org/10.1111/aogs.14256 , https://doi.org/10.1111/aogs.14256

الاتاحة: https://research.vumc.nl/en/publications/8340bd61-9b11-46fc-8172-c8b6f6c13129
https://doi.org/10.1111/aogs.14256
http://www.scopus.com/inward/record.url?scp=85114030807&partnerID=8YFLogxK

المؤلفون: Kloth, Katja, Lozic, Bernarda, Tagoe, Julia, Hoffer, Mariëtte J. V., Van der Ven, Amelie, Thiele, Holger, Altmüller, Janine, Kubisch, Christian, Au, Ping Yee Billie, Denecke, Jonas, Bijlsma, Emilia K., Lessel, Davor

المصدر: http://lobid.org/resources/99370672695206441#!, 22(4):263-269.

مصطلحات موضوعية: Adolescent [MeSH], Ankyrin-G, Mutation, Missense/genetics [MeSH], Humans [MeSH], ANK3, Isoform-based phenotypic continuum, Intellectual Disability/genetics [MeSH], Intellectual disability, Neurodevelopmental Disorders/genetics [MeSH], Protein Isoforms/genetics [MeSH], Original Article, Loss of Heterozygosity [MeSH], Male [MeSH], Ankyrins/genetics [MeSH], Developmental delay, Phenotype [MeSH], Autism Spectrum Disorder/genetics [MeSH], Child [MeSH]

Relation: https://repository.publisso.de/resource/frl:6446353; https://doi.org/10.1007/s10048-021-00655-4; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8426245/

الاتاحة: https://repository.publisso.de/resource/frl:6446353
https://doi.org/10.1007/s10048-021-00655-4
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8426245/

المؤلفون: de Koning, Maayke A., Hoffer, Mariëtte J. V., Nibbeling, Esther A. R., Bijlsma, Emilia K., Toirkens, Menno J. P., Adama‐Scheltema, Phebe N., Verweij, E. Joanne, Veenhof, Marieke B., Santen, Gijs W. E., Peeters‐Scholte, Cacha M. P. C. D.

المصدر: Clinical Genetics ; volume 101, issue 1, page 65-77 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14070
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14070
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.14070

المؤلفون: Sewani, Soha, Azamian, Mahshid S., Mendelsohn, Bryce A., Mau‐Them, Frederic Tran, Réda, Manon, Nambot, Sophie, Isidor, Bertrand, van der Smagt, Jasper J., Shen, Joseph J., Shillington, Amelle, White, Lori, Elloumi, Houda Zghal, Baker, Peter R., Svihovec, Shayna, Brown, Kathleen, Koopman‐Keemink, Yvonne, Hoffer, Mariette J. V., Lakeman, Inge M. M., Brischoux‐Boucher, Elise, Kinali, Maria

المصدر: American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-12, 12p

المؤلفون: Flex Elisabetta, Martinelli Simone, Van Dijck Anke, Ciolfi Andrea, Cecchetti Serena, Coluzzi Elisa, Pannone Luca, Andreoli Cristina, Radio Francesca Clementina, Pizzi Simone, Carpentieri Giovanna, Bruselles Alessandro, Catanzaro Giuseppina, Pedace Lucia, Miele Evelina, Carcarino Elena, Ge Xiaoyan, Chijiwa Chieko, Lewis M. E. Suzanne., Meuwissen Marije, Kenis Sandra, Van der Aa Nathalie, Larson Austin, Brown Kathleen, Wasserstein Melissa P., Skotko Brian G., Begtrup Amber, Person Richard, Karayiorgou Maria, Roos J. Louw, Van Gassen Koen L., Koopmans Marije, Bijlsma Emilia K., Santen Gijs W. E., Barge-Schaapveld Daniela Q. C. M., Ruivenkamp Claudia A. L., Hoffer Mariette J. V., Lalani Seema R., Streff Haley, Craigen William J., Graham Brett H., van den Elzen Annette P. M., Kamphuis Daan J., Ounap Katrin, Reinson Karit, Pajusalu Sander, Wojcik Monica H., Viberti Clara, Di Gaetano Cornelia, Bertini Enrico, Petrucci Simona, De Luca Alessandro, Rota Rossella, Ferretti Elisabetta, Matullo Giuseppe, Dallapiccola Bruno, Sgura Antonella, Walkiewicz Magdalena, Kooy R. Frank., Tartaglia Marco

المساهمون: Flex, Elisabetta, Martinelli, Simone, Van Dijck, Anke, Ciolfi, Andrea, Cecchetti, Serena, Coluzzi, Elisa, Pannone, Luca, Andreoli, Cristina, Radio Francesca, Clementina, Pizzi, Simone, Carpentieri, Giovanna, Bruselles, Alessandro, Catanzaro, Giuseppina, Pedace, Lucia, Miele, Evelina, Carcarino, Elena, Ge, Xiaoyan, Chijiwa, Chieko, Lewis, M. E. Suzanne., Meuwissen, Marije, Kenis, Sandra, Van der Aa, Nathalie, Larson, Austin, Brown, Kathleen, Wasserstein Melissa, P., Skotko Brian, G., Begtrup, Amber, Person, Richard, Karayiorgou, Maria, Roos J., Louw, Van Gassen Koen, L., Koopmans, Marije, Bijlsma Emilia, K., Santen Gijs, W. E., Barge-Schaapveld Daniela, Q. C. M., Ruivenkamp Claudia, A. L., Hoffer Mariette, J. V., Lalani Seema, R., Streff, Haley, Craigen William, J., Graham Brett, H., van den Elzen Annette, P. M., Kamphuis Daan, J., Ounap, Katrin, Reinson, Karit, Pajusalu, Sander, Wojcik Monica, H., Viberti, Clara, Di Gaetano, Cornelia, Bertini, Enrico, Petrucci, Simona, De Luca, Alessandro, Rota, Rossella, Ferretti, Elisabetta, Matullo, Giuseppe, Dallapiccola, Bruno, Sgura, Antonella, Walkiewicz, Magdalena, Kooy, R. Frank., Tartaglia, Marco

مصطلحات موضوعية: accelerated aging, cellular senescence, chromatin compaction, chromatin dynamic, chromatin remodeling, HIST1H1E, linker histone, linker histone H1.4, methylation profiling, replicative senescence, Aneuploidy, Cell Nucleolu, Child, Chromatin, DNA Methylation, Female, Histone, Human, Infant, Male, Middle Aged

Relation: info:eu-repo/semantics/altIdentifier/pmid/31447100; info:eu-repo/semantics/altIdentifier/wos/WOS:000484435700005; volume:105; issue:3; firstpage:493; lastpage:508; numberofpages:16; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11573/1383117; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85071515684

الاتاحة: http://hdl.handle.net/11573/1383117
https://doi.org/10.1016/j.ajhg.2019.07.007

المؤلفون: Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P., Gillentine, Madelyn A., Wilfert, Amy B., Perez-Jurado, Luis A., Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K., Rosenfeld, Jill A., Geisheker, Madeleine R., Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E., Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette J. V., Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin

المصدر: Nature Communications ; volume 11, issue 1 ; ISSN 2041-1723

الاتاحة: https://doi.org/10.1038/s41467-020-19289-5
https://www.nature.com/articles/s41467-020-19289-5.pdf
https://www.nature.com/articles/s41467-020-19289-5

المؤلفون: Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie-Jose´ H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O’Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna

المساهمون: Doctoral Programme Brain & Mind, University of Helsinki, Academy of Finland, Instrumentarium Science Foundation, Estonian Research Council, Broad Center for Mendelian Genomics, National Human Genome Research Institute, MHW, MRC, National Institute of Neurological Disorders and Stroke, National Institutes of Health

المصدر: Human Molecular Genetics ; volume 29, issue 9, page 1426-1439 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddaa051
http://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddaa051/33236612/ddaa051.pdf
http://academic.oup.com/hmg/article-pdf/29/9/1426/33394117/ddaa051.pdf