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Isabelle Audo

Showing results (201-210 of 234) with videos related to

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American Journal of Human Genetics|December 5, 2017
Mutations in TUBB4B Cause a Distinctive Sensorineural DiseaseRomain Luscan, Sabrina Mechaussier, Antoine Paul, et al.
American Journal of Ophthalmology|May 25, 2020
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease SeverityJacque L Duncan, Wendi Liang, Maureen G Maguire, et al.
Neurology|August 12, 2024
Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 CarriersGiulia Coarelli, Charlotte Dubec-Fleury, Emilien Petit, et al.
American Journal of Ophthalmology|March 29, 2025
Characterization of Visual Field Loss Over 4 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) StudyJacque L Duncan, Maureen G Maguire, Lee S McDaniel, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
American Journal of Human Genetics|December 19, 2012
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessChristina Zeitz, Samuel G Jacobson, Christian P Hamel, et al.
Clinical Genetics|August 29, 2024
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variantsMiriam Bauwens, Vincent De Man, Isabelle Audo, 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.
Progress in Retinal and Eye Research|January 20, 2023
Shedding light on myopia by studying complete congenital stationary night blindnessChristina Zeitz, Jérome E Roger, Isabelle Audo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 31, 2024
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophyChristina Zeitz, Julien Navarro, Leila Azizzadeh Pormehr, et al.
Pageof 24

Showing results (201-210 of 234) with videos related to

Sort By:
Pageof 24
American Journal of Human Genetics|December 5, 2017
Mutations in TUBB4B Cause a Distinctive Sensorineural DiseaseRomain Luscan, Sabrina Mechaussier, Antoine Paul, et al.
American Journal of Ophthalmology|May 25, 2020
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease SeverityJacque L Duncan, Wendi Liang, Maureen G Maguire, et al.
Neurology|August 12, 2024
Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 CarriersGiulia Coarelli, Charlotte Dubec-Fleury, Emilien Petit, et al.
American Journal of Ophthalmology|March 29, 2025
Characterization of Visual Field Loss Over 4 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) StudyJacque L Duncan, Maureen G Maguire, Lee S McDaniel, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
American Journal of Human Genetics|December 19, 2012
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessChristina Zeitz, Samuel G Jacobson, Christian P Hamel, et al.
Clinical Genetics|August 29, 2024
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variantsMiriam Bauwens, Vincent De Man, Isabelle Audo, 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.
Progress in Retinal and Eye Research|January 20, 2023
Shedding light on myopia by studying complete congenital stationary night blindnessChristina Zeitz, Jérome E Roger, Isabelle Audo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 31, 2024
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophyChristina Zeitz, Julien Navarro, Leila Azizzadeh Pormehr, et al.
Pageof 24