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Brain : a Journal of Neurology|March 8, 2008
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation studyInes Dierick, Jonathan Baets, Joy Irobi, et al.American Journal of Human Genetics|February 23, 2010
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyMarina L Kennerson, Garth A Nicholson, Stephen G Kaler, et al.The Lancet. Neurology|September 22, 2023
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trialBettina C Henzi, Simone Schmidt, Sara Nagy, et al.Journal of Neurochemistry|September 14, 2017
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathiesMaike F Dohrn, Nicola Glöckle, Lejla Mulahasanovic, et al.Pageof 10