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Isabelle Audo

Showing results (171-180 of 234) with videos related to

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Research Square|February 26, 2024
Coding and non-coding variants in the ciliopathy gene <i>CFAP410</i> cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
Human Mutation|November 12, 2010
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosaIsabel Barragán, Salud Borrego, Juan Ignacio Pieras, et al.
American Journal of Human Genetics|April 1, 2014
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophySaid El Shamieh, Marion Neuillé, Angélique Terray, et al.
Human Mutation|February 4, 2021
CHM mutation spectrum and disease: An update at the time of human therapeutic trialsChristina Zeitz, Marco Nassisi, Caroline Laurent-Coriat, et al.
Ophthalmic Genetics|November 29, 2024
The phenotypic spectrum of <i>CEP250</i> gene variantsCécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, et al.
NPJ Genomic Medicine|November 8, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
Nature Medicine|May 25, 2021
Partial recovery of visual function in a blind patient after optogenetic therapyJosé-Alain Sahel, Elise Boulanger-Scemama, Chloé Pagot, et al.
American Journal of Medical Genetics. Part A|July 31, 2021
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A)Alessandro Iannaccone, Carmen C Brewer, Peiyao Cheng, et al.
Investigative Ophthalmology & Visual Science|September 4, 2020
Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant ExonizationMatteo Di Scipio, Erika Tavares, Shriya Deshmukh, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, et al.
Pageof 24

Showing results (171-180 of 234) with videos related to

Sort By:
Pageof 24
Research Square|February 26, 2024
Coding and non-coding variants in the ciliopathy gene <i>CFAP410</i> cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
Human Mutation|November 12, 2010
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosaIsabel Barragán, Salud Borrego, Juan Ignacio Pieras, et al.
American Journal of Human Genetics|April 1, 2014
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophySaid El Shamieh, Marion Neuillé, Angélique Terray, et al.
Human Mutation|February 4, 2021
CHM mutation spectrum and disease: An update at the time of human therapeutic trialsChristina Zeitz, Marco Nassisi, Caroline Laurent-Coriat, et al.
Ophthalmic Genetics|November 29, 2024
The phenotypic spectrum of <i>CEP250</i> gene variantsCécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, et al.
NPJ Genomic Medicine|November 8, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
Nature Medicine|May 25, 2021
Partial recovery of visual function in a blind patient after optogenetic therapyJosé-Alain Sahel, Elise Boulanger-Scemama, Chloé Pagot, et al.
American Journal of Medical Genetics. Part A|July 31, 2021
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A)Alessandro Iannaccone, Carmen C Brewer, Peiyao Cheng, et al.
Investigative Ophthalmology & Visual Science|September 4, 2020
Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant ExonizationMatteo Di Scipio, Erika Tavares, Shriya Deshmukh, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, et al.
Pageof 24