A Pavlowsky|J Chelly|P Billuart - JoVE Visualize

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Human Genetics|March 1, 1988

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasiaJ Chelly, F Marlhens, B Dutrillaux, et al.

Neuromuscular Disorders : NMD|January 1, 1991

Immunolocalization and developmental expression of dystrophin related protein in skeletal muscleT S Khurana, S C Watkins, P Chafey, et al.

Human Molecular Genetics|August 1, 1993

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genesR G Lafrenière, C J Brown, S Rider, et al.

The Journal of Clinical Investigation|October 1, 1991

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patientsJ Chelly, H Gilgenkrantz, J P Hugnot, et al.

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.

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.

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.

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.

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Showing results (91-100 of 132) with videos related to

Sort By:

Pageof 14

Human Genetics|March 1, 1988

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasiaJ Chelly, F Marlhens, B Dutrillaux, et al.

Neuromuscular Disorders : NMD|January 1, 1991

Immunolocalization and developmental expression of dystrophin related protein in skeletal muscleT S Khurana, S C Watkins, P Chafey, et al.

Human Molecular Genetics|August 1, 1993

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genesR G Lafrenière, C J Brown, S Rider, et al.

The Journal of Clinical Investigation|October 1, 1991

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patientsJ Chelly, H Gilgenkrantz, J P Hugnot, et al.

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.

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.

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.

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 14