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Journal Francais D'Ophtalmologie
|
March 16, 2005
[Hereditary macular dystrophies]
J-M Rozet, S Gerber, D Ducroq, et al.
American Journal of Human Genetics
|
March 26, 1999
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3
A Cabot, J M Rozet, S Gerber, et al.
Investigative Ophthalmology & Visual Science
|
May 1, 2001
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA)
J M Rozet, I Perrault, S Gerber, et al.
Investigative Ophthalmology & Visual Science
|
January 14, 2000
ABCR gene analysis in familial exudative age-related macular degeneration
E H Souied, D Ducroq, J M Rozet, et al.
Molecular Genetics and Metabolism
|
October 21, 1999
Leber congenital amaurosis
I 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 locus
J 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 elderly
J M Rozet, S Gerber, E Souied, et al.
Journal of Medical Genetics
|
January 7, 2005
A third locus for dominant optic atrophy on chromosome 22q
F Barbet, S Hakiki, C Orssaud, et al.
Investigative Ophthalmology & Visual Science
|
October 6, 1999
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus
E 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 amaurosis
I Perrault, J M Rozet, S Gerber, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
Journal Francais D'Ophtalmologie
|
March 16, 2005
[Hereditary macular dystrophies]
J-M Rozet, S Gerber, D Ducroq, et al.
American Journal of Human Genetics
|
March 26, 1999
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3
A Cabot, J M Rozet, S Gerber, et al.
Investigative Ophthalmology & Visual Science
|
May 1, 2001
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA)
J M Rozet, I Perrault, S Gerber, et al.
Investigative Ophthalmology & Visual Science
|
January 14, 2000
ABCR gene analysis in familial exudative age-related macular degeneration
E H Souied, D Ducroq, J M Rozet, et al.
Molecular Genetics and Metabolism
|
October 21, 1999
Leber congenital amaurosis
I 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 locus
J 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 elderly
J M Rozet, S Gerber, E Souied, et al.
Journal of Medical Genetics
|
January 7, 2005
A third locus for dominant optic atrophy on chromosome 22q
F Barbet, S Hakiki, C Orssaud, et al.
Investigative Ophthalmology & Visual Science
|
October 6, 1999
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus
E 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 amaurosis
I Perrault, J M Rozet, S Gerber, et al.
Page
of 2