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Neurobiology of Disease|July 28, 2009
Absence of a differentiation defect in muscle satellite cells from DM2 patientsRichard Pelletier, Frederic Hamel, Daniel Beaulieu, et al.Human Molecular Genetics|August 20, 2013
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowthAnna Corradi, Manuela Fadda, Amélie Piton, et al.Human Mutation|June 18, 2011
Mutations in NOTCH2 in families with Hajdu-Cheney syndromeJacek Majewski, Jeremy A Schwartzentruber, Aurore Caqueret, et al.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.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.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.Plos Genetics|October 31, 2014
De novo mutations in moderate or severe intellectual disabilityFadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, et al.The Journal of Clinical Endocrinology and Metabolism|January 8, 2013
Bioinactive ACTH causing glucocorticoid deficiencyMark E Samuels, Nicole Gallo-Payet, Sandra Pinard, et al.Human Molecular Genetics|March 29, 2011
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic functionAnna Fassio, Lysanne Patry, Sonia Congia, et al.Journal of Medical Genetics|May 21, 2013
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephalyJosé-Mario Capo-Chichi, Joseph Tcherkezian, Fadi F Hamdan, et al.Pageof 2