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J M Rozet

Showing results (11-20 of 43) with videos related to

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Nature Genetics|March 1, 1994
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locusP Saugier-Veber, A Munnich, D Bonneau, et al.
European Journal of Ophthalmology|July 23, 1998
Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosaE H Souied, J M Rozet, S Gerber, et al.
Nature|September 15, 1994
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasiaF Rousseau, J Bonaventure, L Legeai-Mallet, et al.
American Journal of Human Genetics|March 26, 1999
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3A Cabot, J M Rozet, S Gerber, et al.
Journal of Medical Genetics|January 1, 1996
Evidence for a fourth locus in Usher syndrome type IS Gerber, D Larget-Piet, J M Rozet, 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.
Hormone Research|January 1, 1996
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasiaF Rousseau, J Bonaventure, L Legeai-Mallet, et al.
Investigative Ophthalmology & Visual Science|January 14, 2000
ABCR gene analysis in familial exudative age-related macular degenerationE H Souied, D Ducroq, J M Rozet, et al.
Journal of Medical Genetics|December 1, 1995
No evidence of genetic heterogeneity in dominant optic atrophyD Bonneau, E Souied, S Gerber, et al.
Genomics|September 1, 1993
Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2)I Silveira, A Manaia, J Melki, et al.
Pageof 5

Showing results (11-20 of 43) with videos related to

Sort By:
Pageof 5
Nature Genetics|March 1, 1994
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locusP Saugier-Veber, A Munnich, D Bonneau, et al.
European Journal of Ophthalmology|July 23, 1998
Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosaE H Souied, J M Rozet, S Gerber, et al.
Nature|September 15, 1994
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasiaF Rousseau, J Bonaventure, L Legeai-Mallet, et al.
American Journal of Human Genetics|March 26, 1999
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3A Cabot, J M Rozet, S Gerber, et al.
Journal of Medical Genetics|January 1, 1996
Evidence for a fourth locus in Usher syndrome type IS Gerber, D Larget-Piet, J M Rozet, 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.
Hormone Research|January 1, 1996
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasiaF Rousseau, J Bonaventure, L Legeai-Mallet, et al.
Investigative Ophthalmology & Visual Science|January 14, 2000
ABCR gene analysis in familial exudative age-related macular degenerationE H Souied, D Ducroq, J M Rozet, et al.
Journal of Medical Genetics|December 1, 1995
No evidence of genetic heterogeneity in dominant optic atrophyD Bonneau, E Souied, S Gerber, et al.
Genomics|September 1, 1993
Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2)I Silveira, A Manaia, J Melki, et al.
Pageof 5