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Journal of Molecular Neuroscience : MN|August 15, 2019
LMNA-Related Muscular Dystrophy with Clinical Intrafamilial VariabilityAna Cotta, Julia F Paim, Elmano Carvalho, et al.Journal of Molecular Neuroscience : MN|March 13, 2013
Muscle phenotypic variability in limb girdle muscular dystrophy 2 GJulia F Paim, Ana Cotta, Antonio P Vargas, et al.Metallomics : Integrated Biometal Science|June 14, 2016
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)Gonzalo Perez-Siles, Adrienne Grant, Melina Ellis, et al.JIMD Reports|July 21, 2020
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletionAna Cotta, Charlotte L Alston, Sidney Baptista-Junior, 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.Pageof 9