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Gavin Arno

Showing results (131-140 of 185) with videos related to

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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.
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.
Scientific Reports|March 29, 2020
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele FrequencyLizhu Yang, Kaoru Fujinami, Shinji Ueno, 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.
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.
American Journal of Medical Genetics. Part A|June 14, 2019
Delineating the expanding phenotype associated with SCAPER gene mutationJames Fasham, Gavin Arno, Siying Lin, et al.
Research Square|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Frontiers in Cell and Developmental Biology|May 10, 2021
Long-Read Sequencing to Unravel Complex Structural Variants of <i>CEP78</i> Leading to Cone-Rod Dystrophy and Hearing LossGiulia Ascari, Nanna D Rendtorff, Marieke De Bruyne, et al.
Nature Communications|July 3, 2025
Variants in NR6A1 cause a novel oculo vertebral renal syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
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.
Pageof 19

Showing results (131-140 of 185) with videos related to

Sort By:
Pageof 19
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.
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.
Scientific Reports|March 29, 2020
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele FrequencyLizhu Yang, Kaoru Fujinami, Shinji Ueno, 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.
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.
American Journal of Medical Genetics. Part A|June 14, 2019
Delineating the expanding phenotype associated with SCAPER gene mutationJames Fasham, Gavin Arno, Siying Lin, et al.
Research Square|November 28, 2024
Variants in <i>NR6A1</i> cause a novel oculo-vertebral-renal (OVR) syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
Frontiers in Cell and Developmental Biology|May 10, 2021
Long-Read Sequencing to Unravel Complex Structural Variants of <i>CEP78</i> Leading to Cone-Rod Dystrophy and Hearing LossGiulia Ascari, Nanna D Rendtorff, Marieke De Bruyne, et al.
Nature Communications|July 3, 2025
Variants in NR6A1 cause a novel oculo vertebral renal syndromeUma M Neelathi, Ehsan Ullah, Aman George, et al.
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.
Pageof 19