Showing results (181-190 of 187) with videos related to
Sort By:
Pageof 19
You have reached the last page of results.This site can display upto 187 results.
Journal of Neuromuscular Diseases|November 11, 2017
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global DatabaseZaïda Koeks, Catherine L Bladen, David Salgado, et al.Human Molecular Genetics|November 22, 2013
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosisIsabella Fogh, Antonia Ratti, Cinzia Gellera, et al.Genome Medicine|June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A Cousin, Emma L Veale, Nikita R Dsouza, et al.Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.Cell Genomics|October 22, 2024
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic dataSara Saez-Atienzar, Cleide Dos Santos Souza, Ruth Chia, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.Pageof 19