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Jamel Chelly

Showing results (121-130 of 226) with videos related to

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Methods in Molecular Biology (Clifton, N.J.)|March 7, 2019
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental InvolvementTristan Rey, Julien Tarabeux, Bénédicte Gerard, et al.
Skeletal Muscle|November 17, 2015
Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cellsEmmanuelle Massouridès, Jérôme Polentes, Philippe-Emmanuel Mangeot, et al.
Plos One|August 4, 2009
Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functionsFatma Daoud, Aurora Candelario-Martínez, Jean-Marie Billard, et al.
American Journal of Medical Genetics. Part A|November 5, 2003
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlationMarie Gomot, Chantal Gendrot, Alain Verloes, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 23, 2020
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 casesSébastien Cabasson, Julien Van-Gils, Frédéric Villéga, et al.
Human Mutation|June 12, 2019
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairmentAngélique Quartier, Jérémie Courraud, Thuong Thi Ha, et al.
The Journal of Comparative Neurology|November 18, 2006
Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiencyCaroline Kappeler, Marc Dhenain, Françoise Phan Dinh Tuy, et al.
Neuromuscular Disorders : NMD|December 9, 2003
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD geneChristophe Béroud, Alain Carrié, Chérif Beldjord, et al.
American Journal of Medical Genetics. Part A|February 14, 2020
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literaturePauline Le Van Quyen, Nadège Calmels, Maryse Bonnière, et al.
American Journal of Human Genetics|November 25, 2003
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationSarah A Shoichet, Kirsten Hoffmann, Corinna Menzel, et al.
Pageof 23

Showing results (121-130 of 226) with videos related to

Sort By:
Pageof 23
Methods in Molecular Biology (Clifton, N.J.)|March 7, 2019
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental InvolvementTristan Rey, Julien Tarabeux, Bénédicte Gerard, et al.
Skeletal Muscle|November 17, 2015
Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cellsEmmanuelle Massouridès, Jérôme Polentes, Philippe-Emmanuel Mangeot, et al.
Plos One|August 4, 2009
Role of mental retardation-associated dystrophin-gene product Dp71 in excitatory synapse organization, synaptic plasticity and behavioral functionsFatma Daoud, Aurora Candelario-Martínez, Jean-Marie Billard, et al.
American Journal of Medical Genetics. Part A|November 5, 2003
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlationMarie Gomot, Chantal Gendrot, Alain Verloes, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 23, 2020
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 casesSébastien Cabasson, Julien Van-Gils, Frédéric Villéga, et al.
Human Mutation|June 12, 2019
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairmentAngélique Quartier, Jérémie Courraud, Thuong Thi Ha, et al.
The Journal of Comparative Neurology|November 18, 2006
Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiencyCaroline Kappeler, Marc Dhenain, Françoise Phan Dinh Tuy, et al.
Neuromuscular Disorders : NMD|December 9, 2003
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD geneChristophe Béroud, Alain Carrié, Chérif Beldjord, et al.
American Journal of Medical Genetics. Part A|February 14, 2020
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literaturePauline Le Van Quyen, Nadège Calmels, Maryse Bonnière, et al.
American Journal of Human Genetics|November 25, 2003
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationSarah A Shoichet, Kirsten Hoffmann, Corinna Menzel, et al.
Pageof 23