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Genetics in Medicine Open
|
December 13, 2024
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
Teresa Campbell, Jesse Slone, Hallie Metzger, et al.
International Journal of Biological Sciences
|
May 20, 2026
Synonymous editing alters ion channel function, favoring prime editing for retinal disease correction
Meha Kabra, Mariya Moosajee, Ana Navarrete, et al.
Plos Biology
|
October 19, 2023
Identification of the regulatory circuit governing corneal epithelial fate determination and disease
Jos G A Smits, Dulce Lima Cunha, Maryam Amini, et al.
Ophthalmology
|
May 20, 2020
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Nikolas Pontikos, Gavin Arno, Neringa Jurkute, et al.
Ophthalmology. Retina
|
January 14, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort
Siying Lin, Sandra Vermeirsch, Nikolas Pontikos, et al.
Investigative Ophthalmology & Visual Science
|
August 29, 2025
Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa
Mark J Hughes, Tina Lamey, Elena R Schiff, et al.
Investigative Ophthalmology & Visual Science
|
March 13, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140
Sarah Hull, Nicholas Owen, Farrah Islam, et al.
The British Journal of Ophthalmology
|
May 9, 2025
Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI
Wendy Wong, Dayyanah Sumodhee, Tiyi Morris, et al.
Investigative Ophthalmology & Visual Science
|
September 9, 2025
Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia
Callum Hunt, Ha-Jun Yoon, Alvin Lirio, et al.
Ophthalmology Science
|
July 31, 2025
Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases
Gunjan Naik, Saoud Al-Khuzaei, Ismail Moghul, et al.
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Search research articles
Search
Showing results (161-170 of 176) with videos related to
Sort By:
Page
of 18
Genetics in Medicine Open
|
December 13, 2024
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
Teresa Campbell, Jesse Slone, Hallie Metzger, et al.
International Journal of Biological Sciences
|
May 20, 2026
Synonymous editing alters ion channel function, favoring prime editing for retinal disease correction
Meha Kabra, Mariya Moosajee, Ana Navarrete, et al.
Plos Biology
|
October 19, 2023
Identification of the regulatory circuit governing corneal epithelial fate determination and disease
Jos G A Smits, Dulce Lima Cunha, Maryam Amini, et al.
Ophthalmology
|
May 20, 2020
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Nikolas Pontikos, Gavin Arno, Neringa Jurkute, et al.
Ophthalmology. Retina
|
January 14, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort
Siying Lin, Sandra Vermeirsch, Nikolas Pontikos, et al.
Investigative Ophthalmology & Visual Science
|
August 29, 2025
Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa
Mark J Hughes, Tina Lamey, Elena R Schiff, et al.
Investigative Ophthalmology & Visual Science
|
March 13, 2016
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140
Sarah Hull, Nicholas Owen, Farrah Islam, et al.
The British Journal of Ophthalmology
|
May 9, 2025
Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI
Wendy Wong, Dayyanah Sumodhee, Tiyi Morris, et al.
Investigative Ophthalmology & Visual Science
|
September 9, 2025
Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia
Callum Hunt, Ha-Jun Yoon, Alvin Lirio, et al.
Ophthalmology Science
|
July 31, 2025
Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases
Gunjan Naik, Saoud Al-Khuzaei, Ismail Moghul, et al.
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of 18