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Ophthalmology
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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.
Journal of Medical Genetics
|
December 3, 2011
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, et al.
Ophthalmology
|
March 26, 2019
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen
Rachel L Taylor, James A Poulter, Susan M Downes, et al.
Human Molecular Genetics
|
January 31, 2020
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease
Maria Toms, Adam M Dubis, Erik de Vrieze, et al.
American Journal of Ophthalmology
|
August 20, 2013
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function
Kaoru Fujinami, Panagiotis I Sergouniotis, Alice E Davidson, et al.
Scientific Reports
|
August 10, 2017
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus
Valentina Cipriani, Raquel S Silva, Gavin Arno, et al.
JAMA Ophthalmology
|
July 9, 2016
Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction
Sarah Hull, Aeesha N J Malik, Gavin Arno, et al.
American Journal of Ophthalmology
|
August 18, 2025
SNRNP200- associated Retinopathy: In-depth Clinical Phenotyping and Genetic Characterization
Juan C Romo-Aguas, Yannik Laich, Angelos Kalitzeos, et al.
Molecular Vision
|
November 9, 2011
RDH12 retinopathy: novel mutations and phenotypic description
Donna S Mackay, Arundhati Dev Borman, Phillip Moradi, et al.
Page
of 38
Search research articles
Search
Showing results (221-230 of 372) with videos related to
Sort By:
Page
of 38
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.
Journal of Medical Genetics
|
December 3, 2011
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, et al.
Ophthalmology
|
March 26, 2019
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen
Rachel L Taylor, James A Poulter, Susan M Downes, et al.
Human Molecular Genetics
|
January 31, 2020
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease
Maria Toms, Adam M Dubis, Erik de Vrieze, et al.
American Journal of Ophthalmology
|
August 20, 2013
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function
Kaoru Fujinami, Panagiotis I Sergouniotis, Alice E Davidson, et al.
Scientific Reports
|
August 10, 2017
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus
Valentina Cipriani, Raquel S Silva, Gavin Arno, et al.
JAMA Ophthalmology
|
July 9, 2016
Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction
Sarah Hull, Aeesha N J Malik, Gavin Arno, et al.
American Journal of Ophthalmology
|
August 18, 2025
SNRNP200- associated Retinopathy: In-depth Clinical Phenotyping and Genetic Characterization
Juan C Romo-Aguas, Yannik Laich, Angelos Kalitzeos, et al.
Molecular Vision
|
November 9, 2011
RDH12 retinopathy: novel mutations and phenotypic description
Donna S Mackay, Arundhati Dev Borman, Phillip Moradi, et al.
Page
of 38