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P Leroy

Showing results (401-410 of 438) with videos related to

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Investigative Ophthalmology & Visual Science|March 1, 2006
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosisSuzanne Yzer, Bart P Leroy, Elfride De Baere, et al.
Human Molecular Genetics|July 27, 2001
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlationE De Baere, M J Dixon, K W Small, et al.
American Journal of Human Genetics|July 21, 2009
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disordersAlberta A H J Thiadens, Anneke I den Hollander, Susanne Roosing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2018
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
European Journal of Human Genetics : EJHG|July 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendationsHélène Dollfus, Marc R Lilien, Pietro Maffei, et al.
Investigative Ophthalmology & Visual Science|August 15, 2018
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR GeneMays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh, et al.
Genome Medicine|January 6, 2024
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal diseaseAlfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, et al.
Ophthalmology|January 24, 2012
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophyAlberta A H J Thiadens, T My Lan Phan, Renate C Zekveld-Vroon, et al.
Human Mutation|January 31, 2020
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertilityGiulia Ascari, Frank Peelman, Pietro Farinelli, et al.
Pageof 44

Showing results (401-410 of 438) with videos related to

Sort By:
Pageof 44
Investigative Ophthalmology & Visual Science|March 1, 2006
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosisSuzanne Yzer, Bart P Leroy, Elfride De Baere, et al.
Human Molecular Genetics|July 27, 2001
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlationE De Baere, M J Dixon, K W Small, et al.
American Journal of Human Genetics|July 21, 2009
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disordersAlberta A H J Thiadens, Anneke I den Hollander, Susanne Roosing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2018
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal diseaseStijn Van de Sompele, Claire Smith, Marianthi Karali, et al.
European Journal of Human Genetics : EJHG|July 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendationsHélène Dollfus, Marc R Lilien, Pietro Maffei, et al.
Investigative Ophthalmology & Visual Science|August 15, 2018
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR GeneMays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh, et al.
Genome Medicine|January 6, 2024
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal diseaseAlfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, et al.
Ophthalmology|January 24, 2012
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophyAlberta A H J Thiadens, T My Lan Phan, Renate C Zekveld-Vroon, et al.
Human Mutation|January 31, 2020
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertilityGiulia Ascari, Frank Peelman, Pietro Farinelli, et al.
Pageof 44