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J-M Rozet

Showing results (21-30 of 57) with videos related to

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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.
Journal of Medical Genetics|April 16, 2002
Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR geneJ-M Rozet, I Perrault, N Gigarel, et al.
Human Mutation|January 1, 1996
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemiaB Gilbert-Dussardier, B Segues, J M Rozet, 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.
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.
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.
Genomics|March 21, 1998
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt diseaseS Gerber, J M Rozet, T J van de Pol, et al.
Pageof 6

Showing results (21-30 of 57) with videos related to

Sort By:
Pageof 6
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.
Journal of Medical Genetics|April 16, 2002
Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR geneJ-M Rozet, I Perrault, N Gigarel, et al.
Human Mutation|January 1, 1996
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemiaB Gilbert-Dussardier, B Segues, J M Rozet, 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.
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.
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.
Genomics|March 21, 1998
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt diseaseS Gerber, J M Rozet, T J van de Pol, et al.
Pageof 6