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Molecular Genetics & Genomic Medicine|March 13, 2018
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromasSavana C L Santos, Isabela M P O Rizzo, Reinaldo I Takata, et al.
American Journal of Medical Genetics|February 27, 1995
Why is the reproductive performance lower in Becker (BMD) as compared to limb girdle (LGMD) muscular dystrophy male patients?S Eggers, V Lauriano, M Melo, et al.
Neuromuscular Disorders : NMD|January 1, 1992
A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardationD Rapaport, M R Passos-Bueno, R I Takata, et al.
Clinical Genetics|October 3, 2009
Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patientsD R Carvalho, M M M Navarro, B J A F Martins, et al.
Disease Models & Mechanisms|January 24, 2020
Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCsGonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, et al.
Neuromuscular Disorders : NMD|November 26, 1998
Clinical diagnosis of heterozygous dystrophin gene deletions by fluorescence in situ hybridizationC Rosenberg, L Navajas, D F Vagenas, et al.
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