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American Journal of Human Genetics
|
October 6, 2020
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
Suzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al.
American Journal of Ophthalmology
|
March 19, 2021
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2
Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, et al.
American Journal of Ophthalmology
|
December 14, 2020
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1
Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, et al.
Ophthalmology. Retina
|
March 22, 2022
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene
Leo C Hahn, Michalis Georgiou, Hind Almushattat, et al.
Nature Machine Intelligence
|
June 26, 2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene
Nikolas Pontikos, William A Woof, Siying Lin, et al.
NPJ Genomic Medicine
|
April 17, 2025
Variants in CFAP410 cause a range of retinal and skeletal phenotypes
Ryan E Schmidt, Amy E Pohodich, David Birch, et al.
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Search research articles
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Showing results (91-100 of 96) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 96 results.
American Journal of Human Genetics
|
October 6, 2020
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
Suzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al.
American Journal of Ophthalmology
|
March 19, 2021
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2
Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, et al.
American Journal of Ophthalmology
|
December 14, 2020
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1
Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, et al.
Ophthalmology. Retina
|
March 22, 2022
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene
Leo C Hahn, Michalis Georgiou, Hind Almushattat, et al.
Nature Machine Intelligence
|
June 26, 2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene
Nikolas Pontikos, William A Woof, Siying Lin, et al.
NPJ Genomic Medicine
|
April 17, 2025
Variants in CFAP410 cause a range of retinal and skeletal phenotypes
Ryan E Schmidt, Amy E Pohodich, David Birch, et al.
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of 10