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Elise Heon

Showing results (71-80 of 87) with videos related to

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Investigative Ophthalmology & Visual Science|August 2, 2017
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel MutationsChristina Gerth-Kahlert, Amit Tiwari, James V M Hanson, 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.
Investigative Ophthalmology & Visual Science|December 23, 2021
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, et al.
American Journal of Ophthalmology|August 25, 2022
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease SeverityEleonora M Lad, Jacque L Duncan, Wendi Liang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 6, 2020
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degenerationAnjali Vig, James A Poulter, Daniele Ottaviani, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|September 14, 2011
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 yearsSamuel G Jacobson, Artur V Cideciyan, Ramakrishna Ratnakaram, et al.
Science Advances|October 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathiesKamal Khan, Erika Tavares, Katherine Bishara, et al.
Investigative Ophthalmology & Visual Science|April 14, 2026
ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological FindingsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionKathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
The British Journal of Ophthalmology|October 18, 2023
<i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, et al.
Pageof 9

Showing results (71-80 of 87) with videos related to

Sort By:
Pageof 9
Investigative Ophthalmology & Visual Science|August 2, 2017
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel MutationsChristina Gerth-Kahlert, Amit Tiwari, James V M Hanson, 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.
Investigative Ophthalmology & Visual Science|December 23, 2021
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, et al.
American Journal of Ophthalmology|August 25, 2022
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease SeverityEleonora M Lad, Jacque L Duncan, Wendi Liang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 6, 2020
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degenerationAnjali Vig, James A Poulter, Daniele Ottaviani, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|September 14, 2011
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 yearsSamuel G Jacobson, Artur V Cideciyan, Ramakrishna Ratnakaram, et al.
Science Advances|October 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathiesKamal Khan, Erika Tavares, Katherine Bishara, et al.
Investigative Ophthalmology & Visual Science|April 14, 2026
ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological FindingsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionKathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
The British Journal of Ophthalmology|October 18, 2023
<i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, et al.
Pageof 9