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Human Mutation|October 4, 2012
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndromeJosé-Mario Capo-Chichi, Sanjay Kumar Bharti, Joshua A Sommers, et al.European Journal of Human Genetics : EJHG|November 20, 2014
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndromeJulie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, et al.Nature Communications|November 10, 2016
Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive functionMartin H Berryer, Bidisha Chattopadhyaya, Paul Xing, 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.HGG Advances|November 5, 2025
CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephalyHaoling Xu, Zhen Liu, Fadi F Hamdan, et al.Plos Genetics|April 13, 2018
Global characterization of copy number variants in epilepsy patients from whole genome sequencingJean Monlong, Simon L Girard, Caroline Meloche, et al.Plos Genetics|October 31, 2014
De novo mutations in moderate or severe intellectual disabilityFadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, et al.Journal of Medical Genetics|February 5, 2015
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduriaJosé-Mario Capo-Chichi, Sarah Boissel, Edna Brustein, et al.Annals of Neurology|June 27, 2009
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsyFadi F Hamdan, Amélie Piton, Julie Gauthier, et al.Pageof 10