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Andrew R Webster

Showing results (281-290 of 339) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 13, 2025
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophyMiriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, et al.
The British Journal of Ophthalmology|October 10, 2018
Macular spatial distribution of preserved autofluorescence in patients with choroideremiaAmir H Hariri, Michael S Ip, Aniz Girach, et al.
American Journal of Ophthalmology|April 26, 2022
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease ProgressionAnna Majander, Neringa Jurkute, Florence Burté, et al.
American Journal of Human Genetics|February 26, 2026
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophyAbigail R Moye, Caitlyn L McCafferty, Siying Lin, et al.
Bioinformatics (Oxford, England)|March 24, 2017
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic dataNikolas Pontikos, Jing Yu, Ismail Moghul, et al.
Journal of Medical Genetics|April 27, 2017
Missense mutations in the WD40 domain of <i>AHI1</i> cause non-syndromic retinitis pigmentosaThanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, et al.
NPJ Genomic Medicine|October 20, 2022
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotypeNeringa Jurkute, Francesca Cancellieri, Lisa Pohl, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 18, 2010
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 miceJames S Friedman, Bo Chang, Daniel S Krauth, et al.
Scientific Reports|October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersCharlie Rowlands, Huw B Thomas, Jenny Lord, et al.
American Journal of Ophthalmology|May 14, 2017
Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With ChoroideremiaAmir H Hariri, Swetha B Velaga, Aniz Girach, et al.
Pageof 34

Showing results (281-290 of 339) with videos related to

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Pageof 34
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 13, 2025
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophyMiriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, et al.
The British Journal of Ophthalmology|October 10, 2018
Macular spatial distribution of preserved autofluorescence in patients with choroideremiaAmir H Hariri, Michael S Ip, Aniz Girach, et al.
American Journal of Ophthalmology|April 26, 2022
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease ProgressionAnna Majander, Neringa Jurkute, Florence Burté, et al.
American Journal of Human Genetics|February 26, 2026
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophyAbigail R Moye, Caitlyn L McCafferty, Siying Lin, et al.
Bioinformatics (Oxford, England)|March 24, 2017
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic dataNikolas Pontikos, Jing Yu, Ismail Moghul, et al.
Journal of Medical Genetics|April 27, 2017
Missense mutations in the WD40 domain of <i>AHI1</i> cause non-syndromic retinitis pigmentosaThanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, et al.
NPJ Genomic Medicine|October 20, 2022
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotypeNeringa Jurkute, Francesca Cancellieri, Lisa Pohl, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 18, 2010
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 miceJames S Friedman, Bo Chang, Daniel S Krauth, et al.
Scientific Reports|October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersCharlie Rowlands, Huw B Thomas, Jenny Lord, et al.
American Journal of Ophthalmology|May 14, 2017
Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With ChoroideremiaAmir H Hariri, Swetha B Velaga, Aniz Girach, et al.
Pageof 34