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Human Mutation
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January 3, 2013
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
Alice E Davidson, Panagiotis I Sergouniotis, Donna S Mackay, et al.
Ophthalmology. Retina
|
June 18, 2023
CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History
Malena Daich Varela, Emma S Duignan, Samantha R De Silva, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
March 31, 2025
ISCEV standard full-field ERG reference limits from 407 healthy subjects, derived from transference and validation of reference data between electrode types and centres
Rebecca A Baker, Shaun M Leo, William I N Clowes, et al.
Ophthalmology. Retina
|
January 14, 2020
Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy
Genevieve A Wright, Michalis Georgiou, Anthony G Robson, et al.
Investigative Ophthalmology & Visual Science
|
October 2, 2014
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype
Sarah Hull, Gavin Arno, Vincent Plagnol, et al.
Translational Vision Science & Technology
|
September 30, 2022
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography
Sophie L Glinton, Antonio Calcagni, Watjana Lilaonitkul, et al.
JAMA Ophthalmology
|
January 6, 2017
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa
Sarah Hull, Marcella Attanasio, Gavin Arno, et al.
Ophthalmology
|
November 24, 2022
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History
Michalis Georgiou, Anthony G Robson, Katarina Jovanovic, et al.
Ophthalmology
|
February 1, 2014
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy
Stephanie Halford, Gerald Liew, Donna S Mackay, et al.
Ophthalmology
|
March 24, 2015
Author reply: To PMID 24480711
Stephanie Halford, Gerald Liew, Donna S Mackay, et al.
Page
of 19
Search research articles
Search
Showing results (131-140 of 188) with videos related to
Sort By:
Page
of 19
Human Mutation
|
January 3, 2013
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
Alice E Davidson, Panagiotis I Sergouniotis, Donna S Mackay, et al.
Ophthalmology. Retina
|
June 18, 2023
CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History
Malena Daich Varela, Emma S Duignan, Samantha R De Silva, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
March 31, 2025
ISCEV standard full-field ERG reference limits from 407 healthy subjects, derived from transference and validation of reference data between electrode types and centres
Rebecca A Baker, Shaun M Leo, William I N Clowes, et al.
Ophthalmology. Retina
|
January 14, 2020
Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy
Genevieve A Wright, Michalis Georgiou, Anthony G Robson, et al.
Investigative Ophthalmology & Visual Science
|
October 2, 2014
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype
Sarah Hull, Gavin Arno, Vincent Plagnol, et al.
Translational Vision Science & Technology
|
September 30, 2022
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography
Sophie L Glinton, Antonio Calcagni, Watjana Lilaonitkul, et al.
JAMA Ophthalmology
|
January 6, 2017
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa
Sarah Hull, Marcella Attanasio, Gavin Arno, et al.
Ophthalmology
|
November 24, 2022
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History
Michalis Georgiou, Anthony G Robson, Katarina Jovanovic, et al.
Ophthalmology
|
February 1, 2014
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy
Stephanie Halford, Gerald Liew, Donna S Mackay, et al.
Ophthalmology
|
March 24, 2015
Author reply: To PMID 24480711
Stephanie Halford, Gerald Liew, Donna S Mackay, et al.
Page
of 19