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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 9, 2019
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat
Nathaniel J Hafford-Tear, Yu-Chih Tsai, Amanda N Sadan, et al.
Human Mutation
|
April 14, 2025
Disruption of <i>OVOL2</i> Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
Lubica Dudakova, Lenka Noskova, Stanislav Kmoch, 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.
Acta Ophthalmologica
|
March 8, 2023
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy
Siyin Liu, Amanda N Sadan, Kirithika Muthusamy, et al.
American Journal of Human Genetics
|
November 15, 2016
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis
Sek-Shir Cheong, Lisa Hentschel, Alice E Davidson, et al.
Human Mutation
|
December 31, 2013
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity
Arundhati Dev Borman, Laura R Pearce, Donna S Mackay, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 25, 2025
Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy
Marcos Abreu Costa, Amanda N Sadan, Nihar Bhattacharyya, et al.
American Journal of Ophthalmology
|
March 19, 2013
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations
Kaoru Fujinami, Noemi Lois, Alice E Davidson, et al.
European Journal of Human Genetics : EJHG
|
August 21, 2024
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant
Freddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, et al.
Investigative Ophthalmology & Visual Science
|
July 8, 2025
Decoding the Cornea-Glaucoma Association: Evidence From Mendelian Randomization
Victor A de Vries, Anita Szabo, Joëlle E Vergroesen, et al.
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Search research articles
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Showing results (31-40 of 66) with videos related to
Sort By:
Page
of 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 9, 2019
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat
Nathaniel J Hafford-Tear, Yu-Chih Tsai, Amanda N Sadan, et al.
Human Mutation
|
April 14, 2025
Disruption of <i>OVOL2</i> Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
Lubica Dudakova, Lenka Noskova, Stanislav Kmoch, 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.
Acta Ophthalmologica
|
March 8, 2023
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy
Siyin Liu, Amanda N Sadan, Kirithika Muthusamy, et al.
American Journal of Human Genetics
|
November 15, 2016
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis
Sek-Shir Cheong, Lisa Hentschel, Alice E Davidson, et al.
Human Mutation
|
December 31, 2013
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity
Arundhati Dev Borman, Laura R Pearce, Donna S Mackay, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 25, 2025
Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy
Marcos Abreu Costa, Amanda N Sadan, Nihar Bhattacharyya, et al.
American Journal of Ophthalmology
|
March 19, 2013
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations
Kaoru Fujinami, Noemi Lois, Alice E Davidson, et al.
European Journal of Human Genetics : EJHG
|
August 21, 2024
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant
Freddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, et al.
Investigative Ophthalmology & Visual Science
|
July 8, 2025
Decoding the Cornea-Glaucoma Association: Evidence From Mendelian Randomization
Victor A de Vries, Anita Szabo, Joëlle E Vergroesen, et al.
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of 7