Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

J-M Rozet

Showing results (41-50 of 57) with videos related to

Pageof 6
Sort By:
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.
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.
Genomics|September 15, 1996
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD)J M Rozet, S Gerber, I Perrault, et al.
Pageof 6

Showing results (41-50 of 57) with videos related to

Sort By:
Pageof 6
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.
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.
Genomics|September 15, 1996
Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD)J M Rozet, S Gerber, I Perrault, et al.
Pageof 6