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Alice E Davidson

Showing results (51-60 of 66) with videos related to

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American Journal of Human Genetics|March 13, 2018
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated ToxicityChristina Zarouchlioti, Beatriz Sanchez-Pintado, Nathaniel J Hafford Tear, et al.
American Journal of Human Genetics|July 16, 2013
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosaAlice E Davidson, Nele Schwarz, Lina Zelinger, et al.
Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.
Ebiomedicine|September 15, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingChristina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, et al.
Plos Genetics|May 7, 2024
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseNihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, et al.
Investigative Ophthalmology & Visual Science|March 20, 2012
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)James A Poulter, Alice E Davidson, Manir Ali, et al.
American Journal of Ophthalmology|November 16, 2023
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1Karynne Patterson, Jessica X Chong, Doug D Chung, et al.
JAMA Ophthalmology|March 13, 2025
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and SeveritySiyin Liu, Amanda N Sadan, Nihar Bhattacharyya, et al.
NAR Genomics and Bioinformatics|December 8, 2022
Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencingAlysha S Taylor, Dinis Barros, Nastassia Gobet, et al.
Plos One|August 6, 2014
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thicknessAlice E Davidson, Sek-Shir Cheong, Pirro G Hysi, et al.
Pageof 7

Showing results (51-60 of 66) with videos related to

Sort By:
Pageof 7
American Journal of Human Genetics|March 13, 2018
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated ToxicityChristina Zarouchlioti, Beatriz Sanchez-Pintado, Nathaniel J Hafford Tear, et al.
American Journal of Human Genetics|July 16, 2013
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosaAlice E Davidson, Nele Schwarz, Lina Zelinger, et al.
Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.
Ebiomedicine|September 15, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingChristina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, et al.
Plos Genetics|May 7, 2024
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseNihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, et al.
Investigative Ophthalmology & Visual Science|March 20, 2012
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)James A Poulter, Alice E Davidson, Manir Ali, et al.
American Journal of Ophthalmology|November 16, 2023
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1Karynne Patterson, Jessica X Chong, Doug D Chung, et al.
JAMA Ophthalmology|March 13, 2025
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and SeveritySiyin Liu, Amanda N Sadan, Nihar Bhattacharyya, et al.
NAR Genomics and Bioinformatics|December 8, 2022
Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencingAlysha S Taylor, Dinis Barros, Nastassia Gobet, et al.
Plos One|August 6, 2014
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thicknessAlice E Davidson, Sek-Shir Cheong, Pirro G Hysi, et al.
Pageof 7