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Isabelle Audo

Showing results (121-130 of 234) with videos related to

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Genes|March 6, 2021
Optic Atrophy and Inner Retinal Thinning in <i>CACNA1F</i>-related Congenital Stationary Night BlindnessKate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, et al.
Molecular Vision|August 2, 2019
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucomaMouna Hadrami, Crystel Bonnet, Christina Zeitz, et al.
International Journal of Molecular Sciences|October 3, 2019
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod DystrophiesElise Boulanger-Scemama, Saddek Mohand-Saïd, Said El Shamieh, et al.
Investigative Ophthalmology & Visual Science|April 28, 2022
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf CohortVasily M Smirnov, Marco Nassisi, Saddek Mohand-Saïd, et al.
Investigative Ophthalmology & Visual Science|August 29, 2007
Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?Isabelle Audo, Olivier M Vanakker, Alaric Smith, et al.
Progress in Retinal and Eye Research|August 17, 2025
Eyes shut homolog (EYS): Connecting molecule to diseaseJoão Pedro Marques, Inês Santos Sousa, Daniela Patrício, et al.
Orphanet Journal of Rare Diseases|January 27, 2012
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseasesIsabelle Audo, Kinga M Bujakowska, Thierry Léveillard, et al.
Biochimica Et Biophysica Acta|May 7, 2014
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2Verena Burtscher, Klaus Schicker, Elena Novikova, et al.
International Journal of Molecular Sciences|August 1, 2018
Expanding the Mutation Spectrum in <i>ABCA4</i>: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt CohortMarco Nassisi, Saddek Mohand-Saïd, Claire-Marie Dhaenens, et al.
Investigative Ophthalmology & Visual Science|February 19, 2010
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patientsIsabelle Audo, Gaël Manes, Saddek Mohand-Saïd, et al.
Pageof 24

Showing results (121-130 of 234) with videos related to

Sort By:
Pageof 24
Genes|March 6, 2021
Optic Atrophy and Inner Retinal Thinning in <i>CACNA1F</i>-related Congenital Stationary Night BlindnessKate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, et al.
Molecular Vision|August 2, 2019
Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucomaMouna Hadrami, Crystel Bonnet, Christina Zeitz, et al.
International Journal of Molecular Sciences|October 3, 2019
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod DystrophiesElise Boulanger-Scemama, Saddek Mohand-Saïd, Said El Shamieh, et al.
Investigative Ophthalmology & Visual Science|April 28, 2022
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf CohortVasily M Smirnov, Marco Nassisi, Saddek Mohand-Saïd, et al.
Investigative Ophthalmology & Visual Science|August 29, 2007
Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?Isabelle Audo, Olivier M Vanakker, Alaric Smith, et al.
Progress in Retinal and Eye Research|August 17, 2025
Eyes shut homolog (EYS): Connecting molecule to diseaseJoão Pedro Marques, Inês Santos Sousa, Daniela Patrício, et al.
Orphanet Journal of Rare Diseases|January 27, 2012
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseasesIsabelle Audo, Kinga M Bujakowska, Thierry Léveillard, et al.
Biochimica Et Biophysica Acta|May 7, 2014
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2Verena Burtscher, Klaus Schicker, Elena Novikova, et al.
International Journal of Molecular Sciences|August 1, 2018
Expanding the Mutation Spectrum in <i>ABCA4</i>: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt CohortMarco Nassisi, Saddek Mohand-Saïd, Claire-Marie Dhaenens, et al.
Investigative Ophthalmology & Visual Science|February 19, 2010
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patientsIsabelle Audo, Gaël Manes, Saddek Mohand-Saïd, et al.
Pageof 24