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Gavin Arno

Showing results (141-150 of 185) with videos related to

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American Journal of Ophthalmology|April 26, 2022
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease ProgressionAnna Majander, Neringa Jurkute, Florence Burté, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
American Journal of Ophthalmology|July 25, 2020
Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, 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.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discoveryAnthony McGuigan, Alistair T Pagnamenta, Laura E Covill, et al.
BMJ Open|March 20, 2023
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)Quang Nguyen, William Woof, Nathaniel Kabiri, 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.
Pageof 19

Showing results (141-150 of 185) with videos related to

Sort By:
Pageof 19
American Journal of Ophthalmology|April 26, 2022
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease ProgressionAnna Majander, Neringa Jurkute, Florence Burté, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
American Journal of Ophthalmology|July 25, 2020
Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, 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.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discoveryAnthony McGuigan, Alistair T Pagnamenta, Laura E Covill, et al.
BMJ Open|March 20, 2023
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)Quang Nguyen, William Woof, Nathaniel Kabiri, 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.
Pageof 19