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J M Rozet

Showing results (31-40 of 43) with videos related to

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Vision Research|April 22, 1999
Exclusion of the apoE gene in autosomal dominant retinitis pigmentosaE H Souied, P Benlian, J M Rozet, et al.
Investigative Ophthalmology & Visual Science|October 6, 1999
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatusE H Souied, D Ducroq, J M Rozet, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Spectrum of retGC1 mutations in Leber's congenital amaurosisI Perrault, J M Rozet, S Gerber, et al.
Human Genetics|April 17, 1998
Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosisI Perrault, S Châtelin, V Nancy, et al.
Nature Genetics|November 1, 1993
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1J Kaplan, S Gerber, D Larget-Piet, et al.
American Journal of Ophthalmology|August 24, 1999
Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic studyE H Souied, D Ducroq, S Gerber, et al.
Prenatal Diagnosis|August 1, 1995
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemiaB Segues, J M Rozet, B Gilbert, et al.
European Journal of Human Genetics : EJHG|August 31, 2001
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosisS Gerber, I Perrault, S Hanein, et al.
Journal of Medical Genetics|November 14, 1997
Severe manifestations in carrier females in X linked retinitis pigmentosaE Souied, B Segues, I Ghazi, et al.
Journal of Medical Genetics|September 1, 2010
Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutationsJ F Papon, I Perrault, A Coste, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
Vision Research|April 22, 1999
Exclusion of the apoE gene in autosomal dominant retinitis pigmentosaE H Souied, P Benlian, J M Rozet, et al.
Investigative Ophthalmology & Visual Science|October 6, 1999
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatusE H Souied, D Ducroq, J M Rozet, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Spectrum of retGC1 mutations in Leber's congenital amaurosisI Perrault, J M Rozet, S Gerber, et al.
Human Genetics|April 17, 1998
Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosisI Perrault, S Châtelin, V Nancy, et al.
Nature Genetics|November 1, 1993
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1J Kaplan, S Gerber, D Larget-Piet, et al.
American Journal of Ophthalmology|August 24, 1999
Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic studyE H Souied, D Ducroq, S Gerber, et al.
Prenatal Diagnosis|August 1, 1995
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemiaB Segues, J M Rozet, B Gilbert, et al.
European Journal of Human Genetics : EJHG|August 31, 2001
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosisS Gerber, I Perrault, S Hanein, et al.
Journal of Medical Genetics|November 14, 1997
Severe manifestations in carrier females in X linked retinitis pigmentosaE Souied, B Segues, I Ghazi, et al.
Journal of Medical Genetics|September 1, 2010
Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutationsJ F Papon, I Perrault, A Coste, et al.
Pageof 5