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JAMA Ophthalmology
|
March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy
Rachel 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 sequencing
Alba 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 Dystrophy
Kamron 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 Hypoplasia
Callum 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-Analysis
Stéphanie 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 Diseases
Gunjan 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 dystrophies
Malena 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 Disease
Mubeen 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 syndrome
Austin D Igelman, Cristy Ku, Mariana Matioli da Palma, et al.
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Search research articles
Search
Showing results (271-280 of 339) with videos related to
Sort By:
Page
of 34
JAMA Ophthalmology
|
March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy
Rachel 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 sequencing
Alba 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 Dystrophy
Kamron 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 Hypoplasia
Callum 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-Analysis
Stéphanie 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 Diseases
Gunjan 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 dystrophies
Malena 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 Disease
Mubeen 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 syndrome
Austin D Igelman, Cristy Ku, Mariana Matioli da Palma, et al.
Page
of 34