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Alice E Davidson

Showing results (31-40 of 66) with videos related to

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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 repeatNathaniel 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 DystrophyLubica 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 functionKaoru Fujinami, Panagiotis I Sergouniotis, Alice E Davidson, et al.
Acta Ophthalmologica|March 8, 2023
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophySiyin 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 DysgenesisSek-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 obesityArundhati 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 dystrophyMarcos 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 correlationsKaoru 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 variantFreddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, et al.
Investigative Ophthalmology & Visual Science|July 8, 2025
Decoding the Cornea-Glaucoma Association: Evidence From Mendelian RandomizationVictor A de Vries, Anita Szabo, Joëlle E Vergroesen, et al.
Pageof 7

Showing results (31-40 of 66) with videos related to

Sort By:
Pageof 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 repeatNathaniel 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 DystrophyLubica 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 functionKaoru Fujinami, Panagiotis I Sergouniotis, Alice E Davidson, et al.
Acta Ophthalmologica|March 8, 2023
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophySiyin 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 DysgenesisSek-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 obesityArundhati 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 dystrophyMarcos 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 correlationsKaoru 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 variantFreddie L Braddock, Jessica C Gardner, Nihar Bhattacharyya, et al.
Investigative Ophthalmology & Visual Science|July 8, 2025
Decoding the Cornea-Glaucoma Association: Evidence From Mendelian RandomizationVictor A de Vries, Anita Szabo, Joëlle E Vergroesen, et al.
Pageof 7