Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
Brain Communications|February 10, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformationsMatthew Coleman, Min Wang, Penny Snell, et al.
European Journal of Human Genetics : EJHG|January 12, 2012
ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasibleMartin B Delatycki, Michelle Wolthuizen, Veronica Collins, et al.
Brain Communications|July 3, 2026
Late-onset epileptic spasms: presentation, aetiology and outcomeSameer Dal, Emma Macdonald-Laurs, Simone Mandelstam, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, et al.
Journal of Neurology|April 8, 2015
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levelsEppie M Yiu, Geneieve Tai, Roger E Peverill, et al.
American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathologyGabrielle R Wilson, Joe C H Sim, Catriona McLean, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
Nature Genetics|March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetranceAshley P L Marsh, Delphine Heron, Timothy J Edwards, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Pageof 3