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Anthony G Robson

Showing results (171-180 of 188) with videos related to

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Investigative Ophthalmology & Visual Science|July 30, 2025
RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical TrialsMalena Daich Varela, Juan Carlos Romo-Aguas, Rosellina Guarascio, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 GenePanagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, et al.
Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.
Plos One|March 14, 2012
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapyMei Hong Tan, Donna S Mackay, Jill Cowing, et al.
JAMA Ophthalmology|May 26, 2017
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal DegenerationCristy A Ku, Sarah Hull, Gavin Arno, et al.
American Journal of Human Genetics|February 7, 2008
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathwaysPreeti Bakrania, Maria Efthymiou, Johannes C Klein, et al.
Ophthalmology|June 10, 2018
Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular DegenerationManjit S Mehat, Venki Sundaram, Caterina Ripamonti, 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.
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 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.
Pageof 19

Showing results (171-180 of 188) with videos related to

Sort By:
Pageof 19
Investigative Ophthalmology & Visual Science|July 30, 2025
RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical TrialsMalena Daich Varela, Juan Carlos Romo-Aguas, Rosellina Guarascio, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 GenePanagiotis I Sergouniotis, Martin McKibbin, Anthony G Robson, et al.
Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.
Plos One|March 14, 2012
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapyMei Hong Tan, Donna S Mackay, Jill Cowing, et al.
JAMA Ophthalmology|May 26, 2017
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal DegenerationCristy A Ku, Sarah Hull, Gavin Arno, et al.
American Journal of Human Genetics|February 7, 2008
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathwaysPreeti Bakrania, Maria Efthymiou, Johannes C Klein, et al.
Ophthalmology|June 10, 2018
Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular DegenerationManjit S Mehat, Venki Sundaram, Caterina Ripamonti, 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.
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 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.
Pageof 19