Showing results (31-40 of 34) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 34 results.
Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.
Annals of Neurology|March 29, 2020
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic NeuropathyLeonardo Caporali, Stefania Magri, Andrea Legati, et al.
American Journal of Human Genetics|November 20, 2021
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxiaZheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, et al.
JAMA Neurology|November 29, 2017
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young AdultsMajida Charif, Alessia Nasca, Kyle Thompson, et al.
Pageof 4