Showing results (71-80 of 78) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 78 results.
American Journal of Human Genetics|July 29, 2014
ELOVL5 mutations cause spinocerebellar ataxia 38Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, et al.
Nature Communications|November 11, 2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafishGiulia Fasano, Valentina Muto, Francesca Clementina Radio, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
American Journal of Human Genetics|February 29, 2024
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophyMelanie Brugger, Antonella Lauri, Yan Zhen, et al.
Clinical Genetics|February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical ManagementGianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
American Journal of Human Genetics|May 21, 2024
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivityTassja Kalm, Claudia Schob, Hanna Völler, et al.
American Journal of Human Genetics|October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossElodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumedSilvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, et al.
Pageof 8