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The Journal of Physiology|April 7, 2022
Time-limited alterations in cortical activity of a knock-in mouse model of KCNQ2-related developmental and epileptic encephalopathyNajoua Biba-Maazou, Hélène Becq, Emilie Pallesi-Pocachard, et al.
Human Molecular Genetics|October 11, 2002
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patientsClaire Braybrook, Steven Lisgo, Kit Doudney, et al.
Pediatric Neurology|May 2, 2006
The incidence of Rett syndrome in FranceThierry Bienvenu, Christophe Philippe, Nicolas De Roux, et al.
EMBO Molecular Medicine|January 9, 2020
Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout miceYann Ehinger, Julie Bruyère, Nicolas Panayotis, et al.
American Journal of Medical Genetics. Part A|May 13, 2014
Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genesCécile Mignon-Ravix, Pierre Cacciagli, Nancy Choucair, et al.
Molecular Cytogenetics|April 30, 2015
Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patientsNancy Choucair, Joelle Abou Ghoch, Sandra Corbani, et al.
Human Mutation|December 28, 2006
Truncation of NHEJ1 in a patient with polymicrogyriaVincent Cantagrel, Anne-Marie Lossi, Steven Lisgo, et al.
American Journal of Medical Genetics. Part A|May 12, 2015
Variable clinical expression in patients with mosaicism for KCNQ2 mutationsMathieu Milh, Caroline Lacoste, Pierre Cacciagli, et al.
American Journal of Human Genetics|February 1, 2002
A locus for bilateral perisylvian polymicrogyria maps to Xq28Laurent Villard, Karine Nguyen, Carlos Cardoso, et al.
Epilepsia|July 21, 2011
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutationsMathieu Milh, Nathalie Villeneuve, Mondher Chouchane, et al.
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