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J Chelly

Showing results (81-90 of 157) with videos related to

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Genomics|October 1, 1989
Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophiesH Gilgenkrantz, J Chelly, M Lambert, et al.
Human Genetics|October 1, 1986
De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophyJ Chelly, F Marlhens, B Le Marec, et al.
Neurology|November 4, 2006
Genotype-phenotype associations for ARX gene duplication in X-linked mental retardationK Szczaluba, M Nawara, K Poirier, et al.
Nature Genetics|January 1, 1993
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding proteinJ Chelly, Z Tümer, T Tønnesen, et al.
Human Molecular Genetics|January 1, 1994
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)N Fairweather, C Bell, S Cochrane, et al.
European Journal of Human Genetics : EJHG|August 10, 1999
Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxiaD Tentler, P Gustavsson, J Leisti, et al.
Clinical Genetics|May 21, 2004
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarismH Van Esch, K Poirier, F de Zegher, et al.
Genomics|March 1, 1995
Construction of a YAC contig spanning the Xq13.3 subbandL Villard, J Gecz, L Colleaux, et al.
Journal of Cellular and Molecular Medicine|June 24, 2010
Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genesJ Nectoux, Y Fichou, H Rosas-Vargas, et al.
American Journal of Human Genetics|September 1, 1995
Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1G Haberhausen, I Schmitt, A Köhler, et al.
Pageof 16

Showing results (81-90 of 157) with videos related to

Sort By:
Pageof 16
Genomics|October 1, 1989
Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophiesH Gilgenkrantz, J Chelly, M Lambert, et al.
Human Genetics|October 1, 1986
De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophyJ Chelly, F Marlhens, B Le Marec, et al.
Neurology|November 4, 2006
Genotype-phenotype associations for ARX gene duplication in X-linked mental retardationK Szczaluba, M Nawara, K Poirier, et al.
Nature Genetics|January 1, 1993
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding proteinJ Chelly, Z Tümer, T Tønnesen, et al.
Human Molecular Genetics|January 1, 1994
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)N Fairweather, C Bell, S Cochrane, et al.
European Journal of Human Genetics : EJHG|August 10, 1999
Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxiaD Tentler, P Gustavsson, J Leisti, et al.
Clinical Genetics|May 21, 2004
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarismH Van Esch, K Poirier, F de Zegher, et al.
Genomics|March 1, 1995
Construction of a YAC contig spanning the Xq13.3 subbandL Villard, J Gecz, L Colleaux, et al.
Journal of Cellular and Molecular Medicine|June 24, 2010
Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genesJ Nectoux, Y Fichou, H Rosas-Vargas, et al.
American Journal of Human Genetics|September 1, 1995
Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1G Haberhausen, I Schmitt, A Köhler, et al.
Pageof 16