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J-M Rozet

Showing results (31-40 of 57) with videos related to

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Journal of Medical Genetics|July 1, 1992
Site specific screening for point mutations in ornithine transcarbamylase deficiencyD Feldmann, J M Rozet, A Pelet, 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.
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.
Human Molecular Genetics|August 1, 1994
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosaE Souied, S Gerber, J M Rozet, et al.
American Journal of Human Genetics|February 1, 1995
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13S Gerber, J M Rozet, D Bonneau, 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.
Human Molecular Genetics|August 1, 1995
A gene for Leber's congenital amaurosis maps to chromosome 17pA Camuzat, H Dollfus, J M Rozet, et al.
Genomics|December 1, 1992
A gene for Usher syndrome type I (USH1A) maps to chromosome 14qJ Kaplan, S Gerber, D Bonneau, et al.
Genomics|May 1, 1994
Genetic heterogeneity of Usher syndrome type 1 in French familiesD Larget-Piet, S Gerber, D Bonneau, et al.
Pageof 6

Showing results (31-40 of 57) with videos related to

Sort By:
Pageof 6
Journal of Medical Genetics|July 1, 1992
Site specific screening for point mutations in ornithine transcarbamylase deficiencyD Feldmann, J M Rozet, A Pelet, 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.
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.
Human Molecular Genetics|August 1, 1994
Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosaE Souied, S Gerber, J M Rozet, et al.
American Journal of Human Genetics|February 1, 1995
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13S Gerber, J M Rozet, D Bonneau, 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.
Human Molecular Genetics|August 1, 1995
A gene for Leber's congenital amaurosis maps to chromosome 17pA Camuzat, H Dollfus, J M Rozet, et al.
Genomics|December 1, 1992
A gene for Usher syndrome type I (USH1A) maps to chromosome 14qJ Kaplan, S Gerber, D Bonneau, et al.
Genomics|May 1, 1994
Genetic heterogeneity of Usher syndrome type 1 in French familiesD Larget-Piet, S Gerber, D Bonneau, et al.
Pageof 6