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I Perrault

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

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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.
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.
American Journal of Human Genetics|March 26, 1999
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosisI Perrault, J M Rozet, I Ghazi, et al.
Human Molecular Genetics|June 9, 1998
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophyR E Kelsell, K Gregory-Evans, A M Payne, et al.
European Journal of Human Genetics : EJHG|August 31, 2001
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosisS Gerber, I Perrault, S Hanein, et al.
Journal of Medical Genetics|November 14, 1997
Severe manifestations in carrier females in X linked retinitis pigmentosaE Souied, B Segues, I Ghazi, et al.
Journal of Medical Genetics|September 1, 2010
Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutationsJ F Papon, I Perrault, A Coste, et al.
Molecular Genetics and Metabolism|June 30, 2000
Prevalence of AIPL1 mutations in inherited retinal degenerative diseaseM M Sohocki, I Perrault, B P Leroy, et al.
Nature Genetics|December 1, 1996
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosisI Perrault, J M Rozet, P Calvas, et al.
Human Genetics|November 9, 2000
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish InquisitionS Gerber, J M Rozet, S I Takezawa, et al.
Pageof 3

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

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
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.
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.
American Journal of Human Genetics|March 26, 1999
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosisI Perrault, J M Rozet, I Ghazi, et al.
Human Molecular Genetics|June 9, 1998
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophyR E Kelsell, K Gregory-Evans, A M Payne, et al.
European Journal of Human Genetics : EJHG|August 31, 2001
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosisS Gerber, I Perrault, S Hanein, et al.
Journal of Medical Genetics|November 14, 1997
Severe manifestations in carrier females in X linked retinitis pigmentosaE Souied, B Segues, I Ghazi, et al.
Journal of Medical Genetics|September 1, 2010
Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutationsJ F Papon, I Perrault, A Coste, et al.
Molecular Genetics and Metabolism|June 30, 2000
Prevalence of AIPL1 mutations in inherited retinal degenerative diseaseM M Sohocki, I Perrault, B P Leroy, et al.
Nature Genetics|December 1, 1996
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosisI Perrault, J M Rozet, P Calvas, et al.
Human Genetics|November 9, 2000
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish InquisitionS Gerber, J M Rozet, S I Takezawa, et al.
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