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Scientific Reports
|
March 7, 2026
Integrating genetics, age and imaging to predict treatment outcomes in neovascular age-related macular degeneration: a proof-of-concept study
Ismail Moghul, Nikolas Pontikos, Anitta Sharma, et al.
Human Mutation
|
February 3, 2019
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy
Raquel S Silva, Gavin Arno, Valentina Cipriani, et al.
American Journal of Ophthalmology
|
October 8, 2023
RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping
Michalis Georgiou, Kaoru Fujinami, Anthony G Robson, et al.
American Journal of Ophthalmology
|
May 19, 2015
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome
Sophie Scheidecker, Sarah Hull, Yaumara Perdomo, et al.
European Journal of Human Genetics : EJHG
|
April 6, 2017
Validation of copy number variation analysis for next-generation sequencing diagnostics
Jamie M Ellingford, Christopher Campbell, Stephanie Barton, et al.
Investigative Ophthalmology & Visual Science
|
May 26, 2005
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families
Neil D Ebenezer, Michel Michaelides, Sharon A Jenkins, et al.
Investigative Ophthalmology & Visual Science
|
June 15, 2022
Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases
Katie M Williams, Michalis Georgiou, Angelos Kalitzeos, et al.
American Journal of Human Genetics
|
January 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Gavin Arno, Keren J Carss, Sarah Hull, et al.
Investigative Ophthalmology & Visual Science
|
October 23, 2018
Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene
Rola Ba-Abbad, Monique Leys, Xinjing Wang, et al.
Ophthalmology. Retina
|
August 11, 2024
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies
Leo C Hahn, Isa van der Veen, Michalis Georgiou, et al.
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of 38
Search research articles
Search
Showing results (251-260 of 372) with videos related to
Sort By:
Page
of 38
Scientific Reports
|
March 7, 2026
Integrating genetics, age and imaging to predict treatment outcomes in neovascular age-related macular degeneration: a proof-of-concept study
Ismail Moghul, Nikolas Pontikos, Anitta Sharma, et al.
Human Mutation
|
February 3, 2019
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy
Raquel S Silva, Gavin Arno, Valentina Cipriani, et al.
American Journal of Ophthalmology
|
October 8, 2023
RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping
Michalis Georgiou, Kaoru Fujinami, Anthony G Robson, et al.
American Journal of Ophthalmology
|
May 19, 2015
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome
Sophie Scheidecker, Sarah Hull, Yaumara Perdomo, et al.
European Journal of Human Genetics : EJHG
|
April 6, 2017
Validation of copy number variation analysis for next-generation sequencing diagnostics
Jamie M Ellingford, Christopher Campbell, Stephanie Barton, et al.
Investigative Ophthalmology & Visual Science
|
May 26, 2005
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families
Neil D Ebenezer, Michel Michaelides, Sharon A Jenkins, et al.
Investigative Ophthalmology & Visual Science
|
June 15, 2022
Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases
Katie M Williams, Michalis Georgiou, Angelos Kalitzeos, et al.
American Journal of Human Genetics
|
January 31, 2017
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Gavin Arno, Keren J Carss, Sarah Hull, et al.
Investigative Ophthalmology & Visual Science
|
October 23, 2018
Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene
Rola Ba-Abbad, Monique Leys, Xinjing Wang, et al.
Ophthalmology. Retina
|
August 11, 2024
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies
Leo C Hahn, Isa van der Veen, Michalis Georgiou, et al.
Page
of 38