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Investigative Ophthalmology & Visual Science
|
August 10, 2022
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1
Maria Pilar Martin-Gutierrez, Elena R Schiff, Genevieve Wright, et al.
Investigative Ophthalmology & Visual Science
|
November 13, 2025
Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype
Linda M Reis, James Bellingham, Fabiana Louise Motta, et al.
Human Mutation
|
March 9, 2017
Single-base substitutions in the CHM promoter as a cause of choroideremia
Alina Radziwon, Gavin Arno, Dianna K Wheaton, et al.
European Journal of Human Genetics : EJHG
|
August 26, 2018
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches
Neringa Jurkute, Anna Majander, Richard Bowman, et al.
Investigative Ophthalmology & Visual Science
|
June 28, 2012
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis
Aman Chandra, Jose A Aragon-Martin, Kathryn Hughes, et al.
Clinical Genetics
|
June 13, 2020
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants
Eleanor Hay, Robert H Henderson, Sahar Mansour, et al.
Circulation
|
March 3, 2004
Heat-shock protein 60-reactive CD4+CD28null T cells in patients with acute coronary syndromes
Behnam Zal, Juan Carlos Kaski, Gavin Arno, et al.
JAMA Ophthalmology
|
June 10, 2016
Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3)
Gavin Arno, Graham E Holder, Christina Chakarova, et al.
Investigative Ophthalmology & Visual Science
|
July 1, 2025
A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry
Wendy M Wong, Anthony G Robson, Rebecca A Baker, et al.
Ophthalmology
|
November 13, 2015
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans
Rola Ba-Abbad, Gavin Arno, Keren Carss, et al.
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of 19
Search research articles
Search
Showing results (51-60 of 185) with videos related to
Sort By:
Page
of 19
Investigative Ophthalmology & Visual Science
|
August 10, 2022
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1
Maria Pilar Martin-Gutierrez, Elena R Schiff, Genevieve Wright, et al.
Investigative Ophthalmology & Visual Science
|
November 13, 2025
Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype
Linda M Reis, James Bellingham, Fabiana Louise Motta, et al.
Human Mutation
|
March 9, 2017
Single-base substitutions in the CHM promoter as a cause of choroideremia
Alina Radziwon, Gavin Arno, Dianna K Wheaton, et al.
European Journal of Human Genetics : EJHG
|
August 26, 2018
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches
Neringa Jurkute, Anna Majander, Richard Bowman, et al.
Investigative Ophthalmology & Visual Science
|
June 28, 2012
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis
Aman Chandra, Jose A Aragon-Martin, Kathryn Hughes, et al.
Clinical Genetics
|
June 13, 2020
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants
Eleanor Hay, Robert H Henderson, Sahar Mansour, et al.
Circulation
|
March 3, 2004
Heat-shock protein 60-reactive CD4+CD28null T cells in patients with acute coronary syndromes
Behnam Zal, Juan Carlos Kaski, Gavin Arno, et al.
JAMA Ophthalmology
|
June 10, 2016
Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3)
Gavin Arno, Graham E Holder, Christina Chakarova, et al.
Investigative Ophthalmology & Visual Science
|
July 1, 2025
A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry
Wendy M Wong, Anthony G Robson, Rebecca A Baker, et al.
Ophthalmology
|
November 13, 2015
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans
Rola Ba-Abbad, Gavin Arno, Keren Carss, et al.
Page
of 19