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Epigenomics|November 20, 2020
Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophyFrancesco Catapano, Dominic Scaglioni, Kate Maresh, et al.
Neuromuscular Disorders : NMD|July 30, 2014
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutationAnamaria Bolocan, Susana Quijano-Roy, Andreea M Seferian, et al.
Science (New York, N.Y.)|March 27, 2004
G protein-coupled receptor-dependent development of human frontal cortexXianhua Piao, R Sean Hill, Adria Bodell, et al.
Human Molecular Genetics|February 18, 2003
Worldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseKiyomi Taniguchi, Kazuhiro Kobayashi, Kayoko Saito, et al.
Human Genetics|April 17, 2007
Intragenic deletion in the LARGE gene causes Walker-Warburg syndromeJeroen van Reeuwijk, Prabhjit K Grewal, Mustafa A M Salih, et al.
American Journal of Human Genetics|October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
American Journal of Human Genetics|September 1, 2009
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophyLucie Gueneau, Anne T Bertrand, Jean-Philippe Jais, et al.
American Journal of Human Genetics|December 22, 2015
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited DisordersDaria Wojtal, Dwi U Kemaladewi, Zeenat Malam, et al.
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