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European Journal of Human Genetics : EJHG|December 25, 2014
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseasesMarina Mora, Corrado Angelini, Fabrizia Bignami, et al.Journal of Neurology|October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsVelina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.American Journal of Human Genetics|February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectJan Senderek, Juliane S Müller, Marina Dusl, et al.Muscle & Nerve|July 22, 2014
Ataluren treatment of patients with nonsense mutation dystrophinopathyKatharine Bushby, Richard Finkel, Brenda Wong, et al.Journal of Comparative Effectiveness Research|August 28, 2020
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophyCraig Campbell, Richard J Barohn, Enrico Bertini, et al.Brain Communications|July 9, 2021
International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophyRabah Ben Yaou, Pomi Yun, Ivana Dabaj, et al.Nature Genetics|August 20, 2008
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBirgit S Budde, Yasmin Namavar, Peter G Barth, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|September 10, 2014
Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patientsCaroline Le Guiner, Marie Montus, Laurent Servais, et al.Nature Genetics|July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow, Andrea Leitch, Bruce E Hayward, et al.American Journal of Human Genetics|September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice, Teresa Patrick, Rekha Parmar, et al.Pageof 16