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Isabelle Audo

Showing results (141-150 of 234) with videos related to

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Eye (London, England)|March 15, 2025
Voretigene neparvovec in RPE65-related inherited retinal dystrophy: the 1-year real-world study LIGHTIsabelle Audo, Pierre-Olivier Barale, Céline Devisme, et al.
Investigative Ophthalmology & Visual Science|August 12, 2025
Progression of Dark-Adapted Visual Fields Over 3 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) StudyDavid G Birch, Jacque L Duncan, Lassana Samarakoon, et al.
Orphanet Journal of Rare Diseases|June 25, 2015
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlationElise Boulanger-Scemama, Said El Shamieh, Vanessa Démontant, et al.
Human Mutation|November 9, 2011
CRB1 mutations in inherited retinal dystrophiesKinga Bujakowska, Isabelle Audo, Saddek Mohand-Saïd, et al.
European Journal of Human Genetics : EJHG|July 5, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosaChristel Vaché, Valérie Faugère, David Baux, et al.
Clinical Genetics|September 30, 2018
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophyCécile Méjécase, Aurélie Hummel, Saddek Mohand-Saïd, et al.
Investigative Ophthalmology & Visual Science|February 12, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher SyndromeLeonardo Colombo, Paolo E Maltese, Marco Castori, et al.
American Journal of Ophthalmology|February 10, 2023
Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17)Rupert W Strauss, Alexander Ho, Anamika Jha, et al.
Molecular Therapy. Methods & Clinical Development|August 17, 2021
Substantial restoration of night vision in adult mice with congenital stationary night blindnessJuliette Varin, Nassima Bouzidi, Gregory Gauvain, et al.
JAMA Ophthalmology|January 28, 2021
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa CohortVasily M Smirnov, Marco Nassisi, Cyntia Solis Hernandez, et al.
Pageof 24

Showing results (141-150 of 234) with videos related to

Sort By:
Pageof 24
Eye (London, England)|March 15, 2025
Voretigene neparvovec in RPE65-related inherited retinal dystrophy: the 1-year real-world study LIGHTIsabelle Audo, Pierre-Olivier Barale, Céline Devisme, et al.
Investigative Ophthalmology & Visual Science|August 12, 2025
Progression of Dark-Adapted Visual Fields Over 3 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) StudyDavid G Birch, Jacque L Duncan, Lassana Samarakoon, et al.
Orphanet Journal of Rare Diseases|June 25, 2015
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlationElise Boulanger-Scemama, Said El Shamieh, Vanessa Démontant, et al.
Human Mutation|November 9, 2011
CRB1 mutations in inherited retinal dystrophiesKinga Bujakowska, Isabelle Audo, Saddek Mohand-Saïd, et al.
European Journal of Human Genetics : EJHG|July 5, 2024
Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosaChristel Vaché, Valérie Faugère, David Baux, et al.
Clinical Genetics|September 30, 2018
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophyCécile Méjécase, Aurélie Hummel, Saddek Mohand-Saïd, et al.
Investigative Ophthalmology & Visual Science|February 12, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher SyndromeLeonardo Colombo, Paolo E Maltese, Marco Castori, et al.
American Journal of Ophthalmology|February 10, 2023
Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 24-Month Period (ProgStar Report No. 17)Rupert W Strauss, Alexander Ho, Anamika Jha, et al.
Molecular Therapy. Methods & Clinical Development|August 17, 2021
Substantial restoration of night vision in adult mice with congenital stationary night blindnessJuliette Varin, Nassima Bouzidi, Gregory Gauvain, et al.
JAMA Ophthalmology|January 28, 2021
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa CohortVasily M Smirnov, Marco Nassisi, Cyntia Solis Hernandez, et al.
Pageof 24