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European Journal of Human Genetics : EJHG|January 11, 2022
Novel biallelic variants expand the SLC5A6-related phenotypic spectrumTess Holling, Sheela Nampoothiri, Bedirhan Tarhan, et al.
Neurology. Genetics|December 4, 2023
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research NetworkPeter B Kang, Magali Jorand-Fletcher, Wanfang Zhang, et al.
Muscle & Nerve|March 3, 2016
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, EgyptHemakumar M Reddy, Sherifa A Hamed, Monkol Lek, et al.
Human Gene Therapy|August 3, 2018
AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth SyndromeSilveli Suzuki-Hatano, Madhurima Saha, Skylar A Rizzo, et al.
Neuromuscular Disorders : NMD|October 17, 2013
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2Satomi Mitsuhashi, Steven E Boyden, Elicia A Estrella, et al.
Neurology. Education|June 18, 2026
Education Research: The Future of Child Neurology Residency Training: The Perspective of a Child Neurology Society Task ForceBruce H Cohen, Donald L Gilbert, Kathryn Xixis, et al.
European Journal of Medical Genetics|November 23, 2020
Growth charts in Cockayne syndrome type 1 and type 2Sarah Baer, Nicolas Tuzin, Peter B Kang, et al.
Muscle & Nerve|March 2, 2021
hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologiesMatthew S Alexander, Rylie M Hightower, Andrea L Reid, et al.
Muscle & Nerve|June 1, 2010
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophyPeter B Kang, Hart G W Lidov, Alexander J White, et al.
Human Molecular Genetics|July 4, 2019
Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathyMadhurima Saha, Skylar A Rizzo, Manashwi Ramanathan, et al.
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