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Isabelle Audo

Showing results (81-90 of 234) with videos related to

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Archives of Ophthalmology (Chicago, Ill. : 1960)|August 11, 2010
An unusual retinal phenotype associated with a novel mutation in RHOIsabelle Audo, Anne Friedrich, Saddek Mohand-Saïd, et al.
Retina (Philadelphia, Pa.)|April 4, 2025
LONG-TERM OUTCOMES OF ANTI-VEGF THERAPY FOR MACULAR NEOVASCULARIZATION IN PRPH2-ASSOCIATED RETINOPATHYLorenzo Bianco, Isabelle Audo, Alessio Antropoli, et al.
Research Square|June 5, 2025
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degenerationRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Translational Vision Science & Technology|January 14, 2026
Clinical and Clustering-Based Subtyping of Extensive Macular Atrophy With Pseudodrusen-Like Appearance (EMAP)Maurizio Battaglia Parodi, Alessio Antropoli, Andrea Saladino, et al.
Genes|February 21, 2019
Novel Missense Mutations in <i>BEST1</i> Are Associated with Bestrophinopathies in Lebanese PatientsLama Jaffal, Wissam H Joumaa, Alexandre Assi, et al.
Ophthalmic Genetics|October 26, 2019
An Ashkenazi Jewish founder mutation in <i>CACNA1F</i> causes retinal phenotype in both hemizygous males and heterozygous female carriersAdva Kimchi, Vardiella Meiner, Shira Silverstein, et al.
BMC Medical Genetics|October 14, 2010
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reportsIsabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, et al.
Biomolecules|January 23, 2024
Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE StudyM Dominik Fischer, Francesca Simonelli, Jayashree Sahni, et al.
Investigative Ophthalmology & Visual Science|December 29, 2020
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR MutationsValentina Di Iorio, Marianthi Karali, Paolo Melillo, et al.
Scientific Reports|February 5, 2021
Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosaMarco Nassisi, Carlo Lavia, Saddek Mohand-Said, et al.
Pageof 24

Showing results (81-90 of 234) with videos related to

Sort By:
Pageof 24
Archives of Ophthalmology (Chicago, Ill. : 1960)|August 11, 2010
An unusual retinal phenotype associated with a novel mutation in RHOIsabelle Audo, Anne Friedrich, Saddek Mohand-Saïd, et al.
Retina (Philadelphia, Pa.)|April 4, 2025
LONG-TERM OUTCOMES OF ANTI-VEGF THERAPY FOR MACULAR NEOVASCULARIZATION IN PRPH2-ASSOCIATED RETINOPATHYLorenzo Bianco, Isabelle Audo, Alessio Antropoli, et al.
Research Square|June 5, 2025
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degenerationRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Translational Vision Science & Technology|January 14, 2026
Clinical and Clustering-Based Subtyping of Extensive Macular Atrophy With Pseudodrusen-Like Appearance (EMAP)Maurizio Battaglia Parodi, Alessio Antropoli, Andrea Saladino, et al.
Genes|February 21, 2019
Novel Missense Mutations in <i>BEST1</i> Are Associated with Bestrophinopathies in Lebanese PatientsLama Jaffal, Wissam H Joumaa, Alexandre Assi, et al.
Ophthalmic Genetics|October 26, 2019
An Ashkenazi Jewish founder mutation in <i>CACNA1F</i> causes retinal phenotype in both hemizygous males and heterozygous female carriersAdva Kimchi, Vardiella Meiner, Shira Silverstein, et al.
BMC Medical Genetics|October 14, 2010
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reportsIsabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, et al.
Biomolecules|January 23, 2024
Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE StudyM Dominik Fischer, Francesca Simonelli, Jayashree Sahni, et al.
Investigative Ophthalmology & Visual Science|December 29, 2020
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR MutationsValentina Di Iorio, Marianthi Karali, Paolo Melillo, et al.
Scientific Reports|February 5, 2021
Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosaMarco Nassisi, Carlo Lavia, Saddek Mohand-Said, et al.
Pageof 24