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P Leroy

Showing results (361-370 of 438) with videos related to

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Translational Vision Science & Technology|August 4, 2025
Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated With Voretigene NeparvovecDavid A Merle, Leen Hertens, Spyridon Dimopoulos, et al.
Brain : a Journal of Neurology|February 10, 2011
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmusMervyn G Thomas, Moira Crosier, Susan Lindsay, et al.
Plos One|September 4, 2019
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromesMargaret A Gustafson, Elizabeth M McCormick, Lalith Perera, et al.
Orphanet Journal of Rare Diseases|March 21, 2021
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statementGraeme C Black, Panagiotis Sergouniotis, Andrea Sodi, et al.
Ophthalmology|August 25, 2019
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 TrialsAlbert M Maguire, Stephen Russell, Jennifer A Wellman, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 23, 2006
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSKF Chevessier, B Faraut, A Ravel-Chapuis, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|June 7, 2024
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)Berith M Balfoort, Filip Van Den Broeck, Marion M Brands, et al.
American Journal of Human Genetics|May 19, 2015
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementMohammed E El-Asrag, Panagiotis I Sergouniotis, Martin McKibbin, et al.
Investigative Ophthalmology & Visual Science|September 29, 2004
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)Jill Yardley, Bart P Leroy, Niki Hart-Holden, et al.
Human Mutation|August 5, 2010
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesFrauke Coppieters, Ingele Casteels, Françoise Meire, et al.
Pageof 44

Showing results (361-370 of 438) with videos related to

Sort By:
Pageof 44
Translational Vision Science & Technology|August 4, 2025
Short-Term Outcomes of Pediatric Patients With Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated With Voretigene NeparvovecDavid A Merle, Leen Hertens, Spyridon Dimopoulos, et al.
Brain : a Journal of Neurology|February 10, 2011
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmusMervyn G Thomas, Moira Crosier, Susan Lindsay, et al.
Plos One|September 4, 2019
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromesMargaret A Gustafson, Elizabeth M McCormick, Lalith Perera, et al.
Orphanet Journal of Rare Diseases|March 21, 2021
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statementGraeme C Black, Panagiotis Sergouniotis, Andrea Sodi, et al.
Ophthalmology|August 25, 2019
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 TrialsAlbert M Maguire, Stephen Russell, Jennifer A Wellman, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|March 23, 2006
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSKF Chevessier, B Faraut, A Ravel-Chapuis, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|June 7, 2024
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)Berith M Balfoort, Filip Van Den Broeck, Marion M Brands, et al.
American Journal of Human Genetics|May 19, 2015
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementMohammed E El-Asrag, Panagiotis I Sergouniotis, Martin McKibbin, et al.
Investigative Ophthalmology & Visual Science|September 29, 2004
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)Jill Yardley, Bart P Leroy, Niki Hart-Holden, et al.
Human Mutation|August 5, 2010
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesFrauke Coppieters, Ingele Casteels, Françoise Meire, et al.
Pageof 44