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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability |
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Titel: |
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability |
Auteur: |
Sabeh, Pascale Dumas, Samantha A. Maios, Claudia Daghar, Hiba Korzeniowski, Marek Rousseau, Justine Lines, Matthew Guerin, Andrea Millichap, John J. Landsverk, Megan Grebe, Theresa Lindstrom, Kristin Strober, Jonathan Ait Mouhoub, Tarik Zweier, Christiane Steinraths, Michelle Hebebrand, Moritz Callewaert, Bert Abou Jamra, Rami Kautza-Lucht, Monika Wegler, Meret Kruszka, Paul Kumps, Candy Banne, Ehud Waberski, Marta Biderman Dieux, Anne Raible, Sarah Krantz, Ian Medne, Livija Pechter, Kieran Villard, Laurent Guerrini, Renzo Bianchini, Claudia Barba, Carmen Mei, Davide Blanc, Xavier Kallay, Christine Ranza, Emmanuelle Yang, Xiao-Ru O'Heir, Emily Donald, Kirsten A. Murugasen, Serini Bruwer, Zandre Calikoglu, Muge Mathews, Jennifer M. Lesieur-Sebellin, Marion Baujat, Geneviève Derive, Nicolas Pierson, Tyler Mark Murrell, Jill R. Shillington, Amelle Ormieres, Clothilde Rondeau, Sophie Reis, André Fernandez-Jaen, Alberto Au, Ping Yee Billie Sweetser, David A. Briere, Lauren C. Couque, Nathalie Perrin, Laurence Schymick, Jennifer Gueguen, Paul Lefebvre, Mathilde Van Andel, Michael Juusola, Jane Antonarakis, Stylianos E. Parker, J. Alex Burnett, Barrington G. Campeau, Philippe M. |
Verschenen in: |
The American journal of human genetics |
Paginering: |
Jaargang 112 () nr. 1 pagina's 75-86 |
Jaar: |
2025 |
Inhoud: |
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Uitgever: |
American Society of Human Genetics |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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