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J Chelly

Showing results (101-110 of 157) with videos related to

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Human Mutation|August 29, 2001
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategyT Bienvenu, I Souville, K Poirier, et al.
Cell|December 21, 1990
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophiesJ Chelly, H Gilgenkrantz, M Lambert, et al.
Journal of Medical Genetics|May 15, 2003
Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardationT Bienvenu, K Poirier, H Van Esch, et al.
Human Molecular Genetics|April 6, 2000
Doublecortin mutations cluster in evolutionarily conserved functional domainsT Sapir, D Horesh, M Caspi, et al.
Human Molecular Genetics|October 1, 1993
Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA)N S Thomas, J Chelly, J Zonana, et al.
American Journal of Human Genetics|April 1, 1997
A gene for dominant nonspecific X-linked mental retardation is located in Xq28V des Portes, P Billuart, A Carrié, et al.
Human Molecular Genetics|June 1, 1993
Fine mapping of the human SCIDX1 locus at Xq12-13.1S Markiewicz, J P DiSanto, J Chelly, et al.
American Journal of Medical Genetics|October 23, 1997
Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24V des Portes, N Soufir, A Carrié, et al.
Pathologie-Biologie|January 14, 1999
Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardationP Billuart, T Bienvenu, N Ronce, et al.
Revue Neurologique|September 24, 2008
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing]N Bahi-Buisson, N Boddaert, Y Saillour, et al.
Pageof 16

Showing results (101-110 of 157) with videos related to

Sort By:
Pageof 16
Human Mutation|August 29, 2001
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategyT Bienvenu, I Souville, K Poirier, et al.
Cell|December 21, 1990
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophiesJ Chelly, H Gilgenkrantz, M Lambert, et al.
Journal of Medical Genetics|May 15, 2003
Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardationT Bienvenu, K Poirier, H Van Esch, et al.
Human Molecular Genetics|April 6, 2000
Doublecortin mutations cluster in evolutionarily conserved functional domainsT Sapir, D Horesh, M Caspi, et al.
Human Molecular Genetics|October 1, 1993
Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA)N S Thomas, J Chelly, J Zonana, et al.
American Journal of Human Genetics|April 1, 1997
A gene for dominant nonspecific X-linked mental retardation is located in Xq28V des Portes, P Billuart, A Carrié, et al.
Human Molecular Genetics|June 1, 1993
Fine mapping of the human SCIDX1 locus at Xq12-13.1S Markiewicz, J P DiSanto, J Chelly, et al.
American Journal of Medical Genetics|October 23, 1997
Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24V des Portes, N Soufir, A Carrié, et al.
Pathologie-Biologie|January 14, 1999
Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardationP Billuart, T Bienvenu, N Ronce, et al.
Revue Neurologique|September 24, 2008
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing]N Bahi-Buisson, N Boddaert, Y Saillour, et al.
Pageof 16