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Alice E Davidson

Showing results (61-70 of 66) with videos related to

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American Journal of Human Genetics|January 11, 2016
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2Alice E Davidson, Petra Liskova, Cerys J Evans, et al.
American Journal of Human Genetics|March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatmentsDavid Cheerie, Margaret M Meserve, Danique Beijer, et al.
Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Communications Biology|March 2, 2021
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconusAlison J Hardcastle, Petra Liskova, Yelena Bykhovskaya, et al.
Pageof 7

Showing results (61-70 of 66) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 66 results.
American Journal of Human Genetics|January 11, 2016
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2Alice E Davidson, Petra Liskova, Cerys J Evans, et al.
American Journal of Human Genetics|March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatmentsDavid Cheerie, Margaret M Meserve, Danique Beijer, et al.
Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Communications Biology|March 2, 2021
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconusAlison J Hardcastle, Petra Liskova, Yelena Bykhovskaya, et al.
Pageof 7