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I Perrault

Showing results (11-20 of 30) with videos related to

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American Journal of Human Genetics|July 31, 1998
A retGC-1 mutation in autosomal dominant cone-rod dystrophyI Perrault, J M Rozet, S Gerber, et al.
Cytogenetics and Cell Genetics|December 5, 1998
Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesotheliomaJ M Rozet, S Gerber, I Perrault, et al.
European Journal of Human Genetics : EJHG|October 22, 1998
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophiesJ M Rozet, S Gerber, E Souied, et al.
Molecular Genetics and Metabolism|October 21, 1999
Leber congenital amaurosisI Perrault, J M Rozet, S Gerber, et al.
Journal of Medical Genetics|June 30, 2000
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locusJ M Rozet, S Gerber, I Ghazi, et al.
Molecular Genetics and Metabolism|October 21, 1999
The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderlyJ M Rozet, S Gerber, E Souied, et al.
Journal of Medical Genetics|January 7, 2005
A third locus for dominant optic atrophy on chromosome 22qF Barbet, S Hakiki, C Orssaud, 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.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
American Journal of Human Genetics|July 31, 1998
A retGC-1 mutation in autosomal dominant cone-rod dystrophyI Perrault, J M Rozet, S Gerber, et al.
Cytogenetics and Cell Genetics|December 5, 1998
Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesotheliomaJ M Rozet, S Gerber, I Perrault, et al.
European Journal of Human Genetics : EJHG|October 22, 1998
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophiesJ M Rozet, S Gerber, E Souied, et al.
Molecular Genetics and Metabolism|October 21, 1999
Leber congenital amaurosisI Perrault, J M Rozet, S Gerber, et al.
Journal of Medical Genetics|June 30, 2000
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locusJ M Rozet, S Gerber, I Ghazi, et al.
Molecular Genetics and Metabolism|October 21, 1999
The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderlyJ M Rozet, S Gerber, E Souied, et al.
Journal of Medical Genetics|January 7, 2005
A third locus for dominant optic atrophy on chromosome 22qF Barbet, S Hakiki, C Orssaud, 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.
Pageof 3