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Neurobiology of Aging|October 16, 2012
Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patientsHussein Daoud, Sylvia Dobrzeniecka, William Camu, et al.
European Journal of Human Genetics : EJHG|November 22, 2012
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individualsAmélie Piton, Loubna Jouan, Daniel Rochefort, et al.
Behavioral and Brain Functions : BBF|February 22, 2013
Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the diseaseLoubna Jouan, Simon L Girard, Sylvia Dobrzeniecka, et al.
European Journal of Human Genetics : EJHG|March 3, 2011
Intellectual disability without epilepsy associated with STXBP1 disruptionFadi F Hamdan, Julie Gauthier, Sylvia Dobrzeniecka, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophyFadi F Hamdan, Hirotomo Saitsu, Kiyomi Nishiyama, et al.
European Journal of Human Genetics : EJHG|November 21, 2013
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genesTracy Tucker, Farah R Zahir, Malachi Griffith, et al.
JAMA Neurology|August 21, 2013
SYNE1 mutations in autosomal recessive cerebellar ataxiaAnne Noreau, Cynthia V Bourassa, Anna Szuto, et al.
European Journal of Human Genetics : EJHG|July 23, 2015
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosumLoubna Jouan, Bouchra Ouled Amar Bencheikh, Hussein Daoud, et al.
American Journal of Human Genetics|October 1, 2013
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic herniaMyriam Srour, David Chitayat, Véronique Caron, et al.
Biological Psychiatry|January 18, 2011
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autismFadi F Hamdan, Hussein Daoud, Amélie Piton, et al.
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