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Biorxiv : the Preprint Server for Biology|February 27, 2026
Multilevel impairment of mitochondrial respiration with sex-specific signatures in inclusion body myositisIbrahim Shammas, Hazem Iaali, Jens O Watzlawik, et al.Pediatric Pulmonology|November 27, 2022
Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large-scale screeningJaime Lopes, Noemi Vidal-Folch, Patrick Lundquist, et al.Neuromuscular Disorders : NMD|December 25, 2025
Clinically discordant siblings with spinal muscular atrophy: insights from their patient-specific iPSC-derived motor neurons and literature reviewSara L Cook, Tyller Mensa, Henry Noma, et al.Plos One|October 3, 2019
A tailored approach to fusion transcript identification increases diagnosis of rare inherited diseaseGavin R Oliver, Xiaojia Tang, Laura E Schultz-Rogers, et al.Clinical Chemistry|August 11, 2023
Confirmation of Insertion, Deletion, and Deletion-Insertion Variants Detected by Next-Generation SequencingLauren A Choate, Alaa Koleilat, Kimberley Harris, et al.American Journal of Medical Genetics. Part A|October 12, 2020
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literatureSheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon, et al.Cell Reports|April 23, 2020
m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and SynchronicityTeun M Klein Gunnewiek, Eline J H Van Hugte, Monica Frega, et al.Pageof 2