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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease |
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Title: |
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease |
Author: |
Calame, Daniel G. Guo, Tianyu Wang, Chen Garrett, Lillian Jolly, Angad Dawood, Moez Kurolap, Alina Henig, Noa Zunz Fatih, Jawid M. Herman, Isabella Du, Haowei Mitani, Tadahiro Becker, Lore Rathkolb, Birgit Gerlini, Raffaele Seisenberger, Claudia Marschall, Susan Hunter, Jill V. Gerard, Amanda Heidlebaugh, Alexis Challman, Thomas Spillmann, Rebecca C. Jhangiani, Shalini N. Coban-Akdemir, Zeynep Lalani, Seema Liu, Lingxiao Revah-Politi, Anya Iglesias, Alejandro Guzman, Edwin Baugh, Evan Boddaert, Nathalie Rondeau, Sophie Ormieres, Clothide Barcia, Giulia Tan, Queenie K.G. Thiffault, Isabelle Pastinen, Tomi Sheikh, Kazim Biliciler, Suur Mei, Davide Melani, Federico Shashi, Vandana Yaron, Yuval Steele, Mary Wakeling, Emma Østergaard, Elsebet Nazaryan-Petersen, Lusine Millan, Francisca Santiago-Sim, Teresa Thevenon, Julien Bruel, Ange-Line Thauvin-Robinet, Christel Popp, Denny Platzer, Konrad Gawlinski, Pawel Wiszniewski, Wojciech Marafi, Dana Pehlivan, Davut Posey, Jennifer E. Gibbs, Richard A. Gailus-Durner, Valerie Guerrini, Renzo Fuchs, Helmut Hrabě de Angelis, Martin Hölter, Sabine M. Cheung, Hoi-Hung Gu, Shen Lupski, James R. |
Appeared in: |
The American journal of human genetics |
Paging: |
Volume 110 () nr. 8 pages 1394-1413 |
Year: |
2023 |
Contents: |
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Publisher: |
American Society of Human Genetics |
Source file: |
Elektronische Wetenschappelijke Tijdschriften |
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