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Isabelle Audo

Showing results (131-140 of 234) with videos related to

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American Journal of Ophthalmology|March 22, 2023
Change in Cone Structure Over 24 Months in USH2A-Related Retinal DegenerationJacque L Duncan, Wendi Liang, Maureen G Maguire, et al.
Investigative Ophthalmology & Visual Science|February 2, 2011
Evaluation of retinal function and flicker light-induced retinal vascular response in normotensive patients with diabetes without retinopathyAmélie Lecleire-Collet, Isabelle Audo, Mounir Aout, et al.
Genes|October 24, 2017
Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone DystrophySaid El Shamieh, Cécile Méjécase, Matteo Bertelli, et al.
Ophthalmology|August 3, 2014
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genesIsabelle Meunier, Gaël Manes, Béatrice Bocquet, et al.
Therapeutic Advances in Ophthalmology|November 17, 2022
RNA-based therapies in inherited retinal diseasesAniz Girach, Isabelle Audo, David G Birch, et al.
JAMA Ophthalmology|February 29, 2024
ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) StudyMarco Nassisi, Giulia Coarelli, Benoit Blanchard, et al.
International Journal of Molecular Sciences|July 25, 2013
Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 proteinJordan A Doumanov, Christina Zeitz, Paloma Dominguez Gimenez, et al.
JAMA Ophthalmology|October 20, 2017
Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9)Rupert W Strauss, Beatriz Muñoz, Alexander Ho, et al.
NPJ Genomic Medicine|April 10, 2026
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severityRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
American Journal of Human Genetics|April 12, 2016
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night BlindnessAjoy Vincent, Isabelle Audo, Erika Tavares, et al.
Pageof 24

Showing results (131-140 of 234) with videos related to

Sort By:
Pageof 24
American Journal of Ophthalmology|March 22, 2023
Change in Cone Structure Over 24 Months in USH2A-Related Retinal DegenerationJacque L Duncan, Wendi Liang, Maureen G Maguire, et al.
Investigative Ophthalmology & Visual Science|February 2, 2011
Evaluation of retinal function and flicker light-induced retinal vascular response in normotensive patients with diabetes without retinopathyAmélie Lecleire-Collet, Isabelle Audo, Mounir Aout, et al.
Genes|October 24, 2017
Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone DystrophySaid El Shamieh, Cécile Méjécase, Matteo Bertelli, et al.
Ophthalmology|August 3, 2014
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genesIsabelle Meunier, Gaël Manes, Béatrice Bocquet, et al.
Therapeutic Advances in Ophthalmology|November 17, 2022
RNA-based therapies in inherited retinal diseasesAniz Girach, Isabelle Audo, David G Birch, et al.
JAMA Ophthalmology|February 29, 2024
ATXN7-Related Cone-Rod Dystrophy: The Integrated Functional Evaluation of the Cerebellum (CERMOI) StudyMarco Nassisi, Giulia Coarelli, Benoit Blanchard, et al.
International Journal of Molecular Sciences|July 25, 2013
Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 proteinJordan A Doumanov, Christina Zeitz, Paloma Dominguez Gimenez, et al.
JAMA Ophthalmology|October 20, 2017
Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9)Rupert W Strauss, Beatriz Muñoz, Alexander Ho, et al.
NPJ Genomic Medicine|April 10, 2026
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severityRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
American Journal of Human Genetics|April 12, 2016
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night BlindnessAjoy Vincent, Isabelle Audo, Erika Tavares, et al.
Pageof 24