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Jamel Chelly

Showing results (151-160 of 226) with videos related to

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Human Molecular Genetics|January 11, 2020
Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogenyJohan G Gilet, Ekaterina L Ivanova, Daria Trofimova, et al.
Brain : a Journal of Neurology|May 26, 2011
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4Vassili Valayannopoulos, Caroline Michot, Diana Rodriguez, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 geneSuzanna G M Frints, Lin Jun, Jean-Pierre Fryns, et al.
European Journal of Medical Genetics|October 14, 2018
Further refinement of COL4A1 and COL4A2 related cortical malformationsMara Cavallin, Manuele Mine, Marion Philbert, et al.
American Journal of Human Genetics|February 14, 2004
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyFrédéric Laumonnier, Frédérique Bonnet-Brilhault, Marie Gomot, et al.
Brain : a Journal of Neurology|October 9, 2010
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complexNadia Bahi-Buisson, Karine Poirier, Nathalie Boddaert, et al.
Human Molecular Genetics|October 12, 2014
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisMariana Ramos-Brossier, Caterina Montani, Nicolas Lebrun, et al.
Human Genetics|October 27, 2005
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationOlivier Hagens, Aline Dubos, Fatima Abidi, et al.
American Journal of Human Genetics|December 9, 2004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen, Marion Amende, Ulf Gurok, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair MechanismsIsabelle Marey, Rabah Ben Yaou, Nathalie Deburgrave, et al.
Pageof 23

Showing results (151-160 of 226) with videos related to

Sort By:
Pageof 23
Human Molecular Genetics|January 11, 2020
Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogenyJohan G Gilet, Ekaterina L Ivanova, Daria Trofimova, et al.
Brain : a Journal of Neurology|May 26, 2011
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4Vassili Valayannopoulos, Caroline Michot, Diana Rodriguez, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 geneSuzanna G M Frints, Lin Jun, Jean-Pierre Fryns, et al.
European Journal of Medical Genetics|October 14, 2018
Further refinement of COL4A1 and COL4A2 related cortical malformationsMara Cavallin, Manuele Mine, Marion Philbert, et al.
American Journal of Human Genetics|February 14, 2004
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyFrédéric Laumonnier, Frédérique Bonnet-Brilhault, Marie Gomot, et al.
Brain : a Journal of Neurology|October 9, 2010
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complexNadia Bahi-Buisson, Karine Poirier, Nathalie Boddaert, et al.
Human Molecular Genetics|October 12, 2014
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisMariana Ramos-Brossier, Caterina Montani, Nicolas Lebrun, et al.
Human Genetics|October 27, 2005
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationOlivier Hagens, Aline Dubos, Fatima Abidi, et al.
American Journal of Human Genetics|December 9, 2004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen, Marion Amende, Ulf Gurok, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair MechanismsIsabelle Marey, Rabah Ben Yaou, Nathalie Deburgrave, et al.
Pageof 23