Showing results (101-110 of 123) with videos related to

Sort By:
Pageof 13
Omics : a Journal of Integrative Biology|February 28, 2020
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease PathwaysMazhor Aldosary, AlBandary Al-Bakheet, Hesham Al-Dhalaan, et al.
Annals of Neurology|March 6, 2014
SLC25A22 is a novel gene for migrating partial seizures in infancyAnnapurna Poduri, Erin L Heinzen, Vida Chitsazzadeh, et al.
EMBO Molecular Medicine|November 28, 2024
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndromeEfil Bayam, Peggy Tilly, Stephan C Collins, et al.
Frontiers in Neurology|September 7, 2021
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic ParaplegiaAshraf Yahia, Liena E O Elsayed, Remi Valter, et al.
European Journal of Human Genetics : EJHG|February 5, 2024
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile EpilepsyMahmoud Koko, Maha A Elseed, Inaam N Mohammed, et al.
Human Mutation|June 21, 2018
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortJosephina A N Meester, Maja Sukalo, Kim C Schröder, et al.
Genome Biology|November 30, 2016
Characterizing the morbid genome of ciliopathiesRanad Shaheen, Katarzyna Szymanska, Basudha Basu, et al.
Neurology|August 16, 2020
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case seriesRocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, et al.
American Journal of Human Genetics|May 31, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyMarianna Madeo, Michelle Stewart, Yuyang Sun, et al.
Human Genetics|September 24, 2017
Expanding the genetic heterogeneity of intellectual disabilityShams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.
Pageof 13