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Neuromuscular Disorders : NMD|May 23, 2020
Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogsVéronique Bolduc, Katie M Minor, Ying Hu, et al.
Neuromuscular Disorders : NMD|May 26, 2020
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicityJanis Stavusis, Ieva Micule, Nathan T Wright, et al.
Neuromuscular Disorders : NMD|May 23, 2015
Dystrophinopathy mimicking metabolic myopathiesTeerin Liewluck, Xia Tian, Lee-Jun Wong, et al.
Neuromuscular Disorders : NMD|May 23, 2015
Selective response to rituximab in a young child with MuSK-associated myasthenia gravisRaghav Govindarajan, Stanley J Iyadurai, Anne Connolly, et al.
Neuromuscular Disorders : NMD|June 3, 2015
A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular spaceSatoshi Iwata, Mikako Ito, Tomohiko Nakata, et al.
Neuromuscular Disorders : NMD|December 10, 1997
Recent studies on oculopharyngeal muscular dystrophy in QuébecJ P Bouchard, B Brais, D Brunet, et al.
Neuromuscular Disorders : NMD|December 10, 1997
Oculopharyngeal muscular dystrophy in UruguayM Medici, C Pizzarossa, D Skuk, et al.
Neuromuscular Disorders : NMD|December 10, 1997
Oculopharyngeal muscular dystrophy in ItalyG Meola, V Sansone, G Rotondo, et al.
Neuromuscular Disorders : NMD|December 10, 1997
Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy geneB Brais, J P Bouchard, F Gosselin, et al.
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