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American Journal of Human Genetics|January 22, 2013
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathyJohann Böhm, Frédéric Chevessier, André Maues De Paula, et al.Genes|June 24, 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean PopulationMathieu Cerino, Patricio González-Hormazábal, Mario Abaji, et al.Orphanet Journal of Rare Diseases|January 22, 2015
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter studyEmmanuelle Salort-Campana, Karine Nguyen, Rafaelle Bernard, et al.International Journal of Molecular Sciences|August 12, 2022
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient CareMaude Vecten, Emmanuelle Pion, Marc Bartoli, et al.Neurology. Genetics|December 22, 2017
Clinical heterogeneity and phenotype/genotype findings in 5 families with <i>GYG1</i> deficiencyRabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, et al.Pageof 8