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Showing results (381-390 of 438) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2018
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
American Journal of Ophthalmology|October 1, 2018
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 GeneDaniel C Chung, Mette Bertelsen, Birgit Lorenz, et al.
Brain : a Journal of Neurology|November 9, 2022
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathyNancy J Newman, Patrick Yu-Wai-Man, Prem S Subramanian, et al.
Human Molecular Genetics|March 4, 2025
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell modelsJulio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, et al.
Investigative Ophthalmology & Visual Science|September 8, 2018
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290Dyon Valkenburg, Caroline van Cauwenbergh, Birgit Lorenz, et al.
BMC Medical Research Methodology|June 17, 2026
Recruiting children and young people with vision impairment for clinical research - experience from the SeeMyLife studyLisa Gittel, Robert P Finger, Verena Richter, et al.
American Journal of Human Genetics|August 4, 2016
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationFrauke Coppieters, Giulia Ascari, Katharina Dannhausen, et al.
Ophthalmology|March 2, 2016
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis PigmentosaLaurence H M Pierrache, Bas P Hartel, Erwin van Wijk, et al.
Scientific Reports|June 25, 2016
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone MonochromacyElena Buena-Atienza, Klaus Rüther, Britta Baumann, et al.
Ophthalmic Research|July 30, 2024
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision InstituteGiacomo Calzetti, Kerstin Schwarzwälder, Giorgia Ottonelli, et al.
Pageof 44

Showing results (381-390 of 438) with videos related to

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Pageof 44
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2018
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
American Journal of Ophthalmology|October 1, 2018
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 GeneDaniel C Chung, Mette Bertelsen, Birgit Lorenz, et al.
Brain : a Journal of Neurology|November 9, 2022
Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathyNancy J Newman, Patrick Yu-Wai-Man, Prem S Subramanian, et al.
Human Molecular Genetics|March 4, 2025
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell modelsJulio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, et al.
Investigative Ophthalmology & Visual Science|September 8, 2018
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290Dyon Valkenburg, Caroline van Cauwenbergh, Birgit Lorenz, et al.
BMC Medical Research Methodology|June 17, 2026
Recruiting children and young people with vision impairment for clinical research - experience from the SeeMyLife studyLisa Gittel, Robert P Finger, Verena Richter, et al.
American Journal of Human Genetics|August 4, 2016
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationFrauke Coppieters, Giulia Ascari, Katharina Dannhausen, et al.
Ophthalmology|March 2, 2016
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis PigmentosaLaurence H M Pierrache, Bas P Hartel, Erwin van Wijk, et al.
Scientific Reports|June 25, 2016
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone MonochromacyElena Buena-Atienza, Klaus Rüther, Britta Baumann, et al.
Ophthalmic Research|July 30, 2024
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision InstituteGiacomo Calzetti, Kerstin Schwarzwälder, Giorgia Ottonelli, et al.
Pageof 44