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American Journal of Human Genetics|October 18, 2016
RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian PopulationSirui Zhou, Amirthagowri Ambalavanan, Daniel Rochefort, et al.The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|November 8, 2014
C9orf72 repeat expansions in rapid eye movement sleep behaviour disorderHussein Daoud, Ronald B Postuma, Cynthia V Bourassa, et al.American Journal of Human Genetics|October 19, 2010
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairmentFadi F Hamdan, Hussein Daoud, Daniel Rochefort, et al.Human Molecular Genetics|October 26, 2014
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosisHannah M Kaneb, Andrew W Folkmann, Véronique V Belzil, et al.American Journal of Human Genetics|August 9, 2011
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2Jean-Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, et al.Science Signaling|March 31, 2016
Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibitionKristopher T Kahle, Jean-François Schmouth, Valérie Lavastre, et al.Nature Genetics|October 9, 2002
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosumHeidi C Howard, David B Mount, Daniel Rochefort, et al.American Journal of Human Genetics|September 22, 2005
A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitorsQing Ling Duan, Borzoo Nikpoor, Marie-Pierre Dube, et al.Human Mutation|November 20, 2012
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiencyMartin H Berryer, Fadi F Hamdan, Laura L Klitten, et al.American Journal of Human Genetics|May 7, 2016
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic ParaplegiaZiv Gan-Or, Naima Bouslam, Nazha Birouk, et al.Pageof 5