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Andrew R Webster

Showing results (271-280 of 339) with videos related to

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JAMA Ophthalmology|March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal DystrophyRachel L Taylor, Gavin Arno, James A Poulter, et al.
Genome Medicine|December 12, 2018
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencingAlba Sanchis-Juan, Jonathan Stephens, Courtney E French, et al.
Investigative Ophthalmology & Visual Science|June 7, 2017
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal DystrophyKamron N Khan, Mohammed E El-Asrag, Cristy A Ku, et al.
Investigative Ophthalmology & Visual Science|September 9, 2025
Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal HypoplasiaCallum Hunt, Ha-Jun Yoon, Alvin Lirio, et al.
JAMA Ophthalmology|April 11, 2024
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-AnalysisStéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, et al.
Ophthalmology Science|July 31, 2025
Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal DiseasesGunjan Naik, Saoud Al-Khuzaei, Ismail Moghul, et al.
Human Molecular Genetics|September 9, 2022
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophiesMalena Daich Varela, James Bellingham, Fabiana Motta, et al.
Ophthalmic Research|November 28, 2019
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study)Jasleen K Jolly, Siegfried K Wagner, Peter Martus, et al.
Molecular Therapy. Nucleic Acids|July 13, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt DiseaseMubeen Khan, Gavin Arno, Ana Fakin, et al.
Ophthalmic Genetics|July 5, 2021
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndromeAustin D Igelman, Cristy Ku, Mariana Matioli da Palma, et al.
Pageof 34

Showing results (271-280 of 339) with videos related to

Sort By:
Pageof 34
JAMA Ophthalmology|March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal DystrophyRachel L Taylor, Gavin Arno, James A Poulter, et al.
Genome Medicine|December 12, 2018
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencingAlba Sanchis-Juan, Jonathan Stephens, Courtney E French, et al.
Investigative Ophthalmology & Visual Science|June 7, 2017
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal DystrophyKamron N Khan, Mohammed E El-Asrag, Cristy A Ku, et al.
Investigative Ophthalmology & Visual Science|September 9, 2025
Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal HypoplasiaCallum Hunt, Ha-Jun Yoon, Alvin Lirio, et al.
JAMA Ophthalmology|April 11, 2024
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-AnalysisStéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, et al.
Ophthalmology Science|July 31, 2025
Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal DiseasesGunjan Naik, Saoud Al-Khuzaei, Ismail Moghul, et al.
Human Molecular Genetics|September 9, 2022
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophiesMalena Daich Varela, James Bellingham, Fabiana Motta, et al.
Ophthalmic Research|November 28, 2019
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study)Jasleen K Jolly, Siegfried K Wagner, Peter Martus, et al.
Molecular Therapy. Nucleic Acids|July 13, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt DiseaseMubeen Khan, Gavin Arno, Ana Fakin, et al.
Ophthalmic Genetics|July 5, 2021
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndromeAustin D Igelman, Cristy Ku, Mariana Matioli da Palma, et al.
Pageof 34