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Jamel Chelly

Showing results (161-170 of 226) with videos related to

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Human Molecular Genetics|October 28, 2017
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical developmentLoïc Broix, Laure Asselin, Carla G Silva, et al.
BMC Medical Genetics|January 22, 2011
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disabilityCecile Pagan, Hany Goubran Botros, Karine Poirier, et al.
European Journal of Human Genetics : EJHG|January 10, 2013
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric ageSandra Mercier, Annick Toutain, Aurélie Toussaint, et al.
Acta Neuropathologica Communications|July 26, 2014
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephalyCatherine Fallet-Bianco, Annie Laquerrière, Karine Poirier, et al.
Parkinsonism & Related Disorders|April 26, 2020
Increased diagnostic yield in complex dystonia through exome sequencingThomas Wirth, Christine Tranchant, Nathalie Drouot, et al.
Human Molecular Genetics|April 25, 2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationThierry Bienvenu, Karine Poirier, Gaelle Friocourt, et al.
Cell|January 16, 2007
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humansDavid A Keays, Guoling Tian, Karine Poirier, et al.
Human Molecular Genetics|July 16, 2009
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expressionFatma Daoud, Nathalie Angeard, Bénédicte Demerre, et al.
Amino Acids|July 29, 2015
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disordersCaroline Nava, Johanna Rupp, Jean-Paul Boissel, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 29, 2017
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagyMeghna Kannan, Efil Bayam, Christel Wagner, et al.
Pageof 23

Showing results (161-170 of 226) with videos related to

Sort By:
Pageof 23
Human Molecular Genetics|October 28, 2017
Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical developmentLoïc Broix, Laure Asselin, Carla G Silva, et al.
BMC Medical Genetics|January 22, 2011
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disabilityCecile Pagan, Hany Goubran Botros, Karine Poirier, et al.
European Journal of Human Genetics : EJHG|January 10, 2013
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric ageSandra Mercier, Annick Toutain, Aurélie Toussaint, et al.
Acta Neuropathologica Communications|July 26, 2014
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephalyCatherine Fallet-Bianco, Annie Laquerrière, Karine Poirier, et al.
Parkinsonism & Related Disorders|April 26, 2020
Increased diagnostic yield in complex dystonia through exome sequencingThomas Wirth, Christine Tranchant, Nathalie Drouot, et al.
Human Molecular Genetics|April 25, 2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationThierry Bienvenu, Karine Poirier, Gaelle Friocourt, et al.
Cell|January 16, 2007
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humansDavid A Keays, Guoling Tian, Karine Poirier, et al.
Human Molecular Genetics|July 16, 2009
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expressionFatma Daoud, Nathalie Angeard, Bénédicte Demerre, et al.
Amino Acids|July 29, 2015
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disordersCaroline Nava, Johanna Rupp, Jean-Paul Boissel, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 29, 2017
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagyMeghna Kannan, Efil Bayam, Christel Wagner, et al.
Pageof 23