Showing results (131-140 of 169) with videos related to

Sort By:
Pageof 17
European Journal of Human Genetics : EJHG|September 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disordersMarlène Malbos, Thierry Gautier, Amelle Shillington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 31, 2023
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouseAnne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, et al.
The Journal of Clinical Investigation|January 26, 2021
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humansThuy-Linh Le, Louise Galmiche, Jonathan Levy, et al.
European Journal of Human Genetics : EJHG|February 19, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsSandra Whalen, Marie Shaw, Cyril Mignot, et al.
American Journal of Human Genetics|November 11, 2022
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletionsHadia Hijazi, Linda M Reis, Davut Pehlivan, et al.
American Journal of Medical Genetics. Part A|November 12, 2022
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patientsClémence Jacquin, Emilie Landais, Céline Poirsier, et al.
American Journal of Human Genetics|March 25, 2023
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesisF Graeme Frost, Marie Morimoto, Prashant Sharma, et al.
American Journal of Medical Genetics. Part A|September 12, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental DisorderSamuel M Bradbrook, Gail Graham, Melissa T Carter, et al.
Nature Communications|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathyMicol Falabella, Sandra Lopez Calcerrada, Jana Aref, et al.
American Journal of Human Genetics|April 3, 2021
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorderXenia Latypova, Marie Vincent, Alice Mollé, et al.
Pageof 17