Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Isabelle Audo

Showing results (191-200 of 234) with videos related to

Pageof 24
Sort By:
Scientific Reports|August 13, 2021
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathyPierre-Henry Gabrielle, Laurence Faivre, Isabelle Audo, et al.
Progress in Retinal and Eye Research|November 27, 2024
Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degenerationAlessio Antropoli, Lorenzo Bianco, Francesco Romano, et al.
Translational Vision Science & Technology|November 2, 2020
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at BaselineDavid G Birch, Peiyao Cheng, Jacque L Duncan, et al.
American Journal of Human Genetics|May 30, 2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic InvolvementSabrina Mechaussier, Basamat Almoallem, Christina Zeitz, et al.
Scientific Reports|September 8, 2016
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 geneIsabelle Meunier, Béatrice Bocquet, Gilles Labesse, et al.
American Journal of Human Genetics|September 5, 2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic InvolvementSabrina Mechaussier, Basamat Almoallem, Christina Zeitz, et al.
American Journal of Human Genetics|September 21, 2010
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindnessS Amer Riazuddin, Amber Shahzadi, Christina Zeitz, et al.
American Journal of Ophthalmology|March 8, 2025
Corrigendum to "Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity" [Am J Ophthalmol 2020;219:87-100]Jacque L Duncan, Wendi Liang, Maureen G Maguire, et al.
American Journal of Ophthalmology|August 3, 2025
Corrigendum to "Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity." Am J Ophthalmol. 2020; 219:87-100Jacque L Duncan, Wendi Liang, Maureen G Maguire, et al.
Clinical Genetics|October 30, 2020
WDR34, a candidate gene for non-syndromic rod-cone dystrophyMaria Solaguren-Beascoa, Kinga M Bujakowska, Cécile Méjécase, et al.
Pageof 24

Showing results (191-200 of 234) with videos related to

Sort By:
Pageof 24
Scientific Reports|August 13, 2021
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathyPierre-Henry Gabrielle, Laurence Faivre, Isabelle Audo, et al.
Progress in Retinal and Eye Research|November 27, 2024
Extensive macular atrophy with pseudodrusen-like appearance (EMAP) clinical characteristics, diagnostic criteria, and insights from allied inherited retinal diseases and age-related macular degenerationAlessio Antropoli, Lorenzo Bianco, Francesco Romano, et al.
Translational Vision Science & Technology|November 2, 2020
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at BaselineDavid G Birch, Peiyao Cheng, Jacque L Duncan, et al.
American Journal of Human Genetics|May 30, 2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic InvolvementSabrina Mechaussier, Basamat Almoallem, Christina Zeitz, et al.
Scientific Reports|September 8, 2016
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 geneIsabelle Meunier, Béatrice Bocquet, Gilles Labesse, et al.
American Journal of Human Genetics|September 5, 2020
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic InvolvementSabrina Mechaussier, Basamat Almoallem, Christina Zeitz, et al.
American Journal of Human Genetics|September 21, 2010
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindnessS Amer Riazuddin, Amber Shahzadi, Christina Zeitz, et al.
American Journal of Ophthalmology|March 8, 2025
Corrigendum to "Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity" [Am J Ophthalmol 2020;219:87-100]Jacque L Duncan, Wendi Liang, Maureen G Maguire, et al.
American Journal of Ophthalmology|August 3, 2025
Corrigendum to "Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity." Am J Ophthalmol. 2020; 219:87-100Jacque L Duncan, Wendi Liang, Maureen G Maguire, et al.
Clinical Genetics|October 30, 2020
WDR34, a candidate gene for non-syndromic rod-cone dystrophyMaria Solaguren-Beascoa, Kinga M Bujakowska, Cécile Méjécase, et al.
Pageof 24