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P Leroy

Showing results (391-400 of 438) with videos related to

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Lancet (London, England)|July 5, 2016
Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trialJean Bennett, Jennifer Wellman, Kathleen A Marshall, et al.
Investigative Ophthalmology & Visual Science|December 23, 2021
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformationsBarbara D'haene, Françoise Meire, Ilse Claerhout, et al.
Human Molecular Genetics|August 30, 2014
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndromeKinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, et al.
American Journal of Human Genetics|June 18, 2005
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndromeD Beysen, J Raes, B P Leroy, et al.
Scientific Reports|October 3, 2024
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophyCansu de Muijnck, Lonneke Haer-Wigman, Judith A M van Everdingen, et al.
JAMA Ophthalmology|October 15, 2020
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation TrialLaura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, et al.
Translational Vision Science & Technology|October 9, 2024
Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History StudyMaureen G Maguire, David G Birch, Jacque L Duncan, et al.
Human Mutation|September 2, 2011
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod responseBernd Wissinger, Simone Schaich, Britta Baumann, et al.
Journal of Inherited Metabolic Disease|January 6, 2025
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort StudyBerith M Balfoort, Filip Van den Broeck, Camiel J F Boon, et al.
Pageof 44

Showing results (391-400 of 438) with videos related to

Sort By:
Pageof 44
Lancet (London, England)|July 5, 2016
Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trialJean Bennett, Jennifer Wellman, Kathleen A Marshall, et al.
Investigative Ophthalmology & Visual Science|December 23, 2021
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformationsBarbara D'haene, Françoise Meire, Ilse Claerhout, et al.
Human Molecular Genetics|August 30, 2014
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndromeKinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, et al.
American Journal of Human Genetics|June 18, 2005
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndromeD Beysen, J Raes, B P Leroy, et al.
Scientific Reports|October 3, 2024
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophyCansu de Muijnck, Lonneke Haer-Wigman, Judith A M van Everdingen, et al.
JAMA Ophthalmology|October 15, 2020
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation TrialLaura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, et al.
Translational Vision Science & Technology|October 9, 2024
Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History StudyMaureen G Maguire, David G Birch, Jacque L Duncan, et al.
Human Mutation|September 2, 2011
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod responseBernd Wissinger, Simone Schaich, Britta Baumann, et al.
Journal of Inherited Metabolic Disease|January 6, 2025
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort StudyBerith M Balfoort, Filip Van den Broeck, Camiel J F Boon, et al.
Pageof 44