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NARA Subscribed2
Publisher
Springer Nature2
Journal
Human Genetics2
Publication Year
20241
20221
Mathilde Nizon results 2 · Newest (Page 1/1, per page 25)
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Author: Mathilde Nizon ×Clear All Filters
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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephalyNARA Subscribed
Human Genetics · 2024 · Vol. 143 · Issue 3 · Springer
Charlotte Herbst; Viktoria Bothe; Meret Wegler; Susanne Axer-Schaefer; Séverine Audebert-Bellanger; Jozef Gecz; Benjamin Cogne; Hagit Baris Feldman; Anselm H. C. Horn; Anna C. E. Hurst; Melissa A. Kelly; Michael C. Kruer; Alina Kurolap; Annie Laquerriere; Megan Li; Paul R. Mark; Markus Morawski; Mathilde Nizon; Tomi Pastinen; Tilman Polster; Pascale Saugier-Veber; Jang SeSong; Heinrich Sticht; Jens T. Stieler; Isabelle Thifffault; Clare L. van Eyk; Pascale Marcorelles; Myriam Vezain-Mouchard; Rami Abou Jamra; Henry Oppermann
Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation or formation of neurites are associated with various psychiatric and neurodevelopmental disorders. Dynamic changes in the cytoskeleton are essential for this process, which is, inter alia, controlled by the dedicator of cytokinesis 4 ( DOCK4 ) through the activation of RAC1 . Here, we clinically describe 7...
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspectsNARA Subscribed
Human Genetics · 2022 · Vol. 141 · Issue 1 · Springer
Juliette Coursimault; Anne-Marie Guerrot; Michelle M. Morrow; Catherine Schramm; Francisca Millan Zamora; Anita Shanmugham; Shuxi Liu; Fanggeng Zou; Frédéric Bilan; Gwenaël Le Guyader; Ange-Line Bruel; Anne-Sophie Denommé-Pichon; Laurence Faivre; Frédéric Tran Mau-Them; Marine Tessarech; Estelle Colin; Salima El Chehadeh; Bénédicte Gérard; Elise Schaefer; Benjamin Cogne; Bertrand Isidor; Mathilde Nizon; Diane Doummar; Stéphanie Valence; Delphine Héron; Boris Keren; Cyril Mignot; Charles Coutton; Françoise Devillard; Anne-Sophie Alaix; Jeanne Amiel; Laurence Colleaux; Arnold Munnich; Karine Poirier; Marlène Rio; Sophie Rondeau; Giulia Barcia; Bert Callewaert; Annelies Dheedene; Candy Kumps; Sarah Vergult; Björn Menten; Wendy K. Chung; Rebecca Hernan; Austin Larson; Kelly Nori; Sarah Stewart; James Wheless; Christina Kresge; Beth A. Pletcher; Roseline Caumes; Thomas Smol; Sabine Sigaudy; Christine Coubes; Margaret Helm; Rosemarie Smith; Jennifer Morrison; Patricia G. Wheeler; Amy Kritzer; Guillaume Jouret; Alexandra Afenjar; Jean-François Deleuze; Robert Olaso; Anne Boland; Christine Poitou; Thierry Frebourg; Claude Houdayer; Pascale Saugier-Veber; Gaël Nicolas; François Lecoquierre
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