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Progress in Retinal and Eye Research
|
August 1, 2020
TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease
Michael P Fautsch, Eric D Wieben, Keith H Baratz, et al.
Eye (London, England)
|
February 19, 2026
Influence of inflammatory and metabolic factors on keratoconus risk: a causal inference analysis
Pirro G Hysi, Alison J Hardcastle, Alice E Davidson, et al.
Investigative Ophthalmology & Visual Science
|
February 19, 2011
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy
Alice E Davidson, Ian D Millar, Rosemary Burgess-Mullan, et al.
Investigative Ophthalmology & Visual Science
|
January 8, 2015
Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus
Alice E Davidson, Edmondo Borasio, Petra Liskova, et al.
Molecular Vision
|
January 5, 2011
A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1
Alice E Davidson, Panagiotis I Sergouniotis, Rosemary Burgess-Mullan, et al.
European Journal of Human Genetics : EJHG
|
October 29, 2015
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3
Petra Liskova, Cerys J Evans, Alice E Davidson, et al.
Ophthalmology
|
June 18, 2013
The clinical effect of homozygous ABCA4 alleles in 18 patients
Kaoru Fujinami, Panagiotis I Sergouniotis, Alice E Davidson, et al.
Human Mutation
|
February 14, 2015
Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED)
Frida Jonsson, Berit Byström, Alice E Davidson, et al.
Acta Ophthalmologica
|
October 13, 2021
Novel disease-causing variants and phenotypic features of X-linked megalocornea
Lubica Dudakova, Stephen Tuft, Sek-Shir Cheong, et al.
Human Mutation
|
January 3, 2013
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
Alice E Davidson, Panagiotis I Sergouniotis, Donna S Mackay, et al.
Page
of 7
Search research articles
Search
Showing results (21-30 of 66) with videos related to
Sort By:
Page
of 7
Progress in Retinal and Eye Research
|
August 1, 2020
TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease
Michael P Fautsch, Eric D Wieben, Keith H Baratz, et al.
Eye (London, England)
|
February 19, 2026
Influence of inflammatory and metabolic factors on keratoconus risk: a causal inference analysis
Pirro G Hysi, Alison J Hardcastle, Alice E Davidson, et al.
Investigative Ophthalmology & Visual Science
|
February 19, 2011
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy
Alice E Davidson, Ian D Millar, Rosemary Burgess-Mullan, et al.
Investigative Ophthalmology & Visual Science
|
January 8, 2015
Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus
Alice E Davidson, Edmondo Borasio, Petra Liskova, et al.
Molecular Vision
|
January 5, 2011
A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1
Alice E Davidson, Panagiotis I Sergouniotis, Rosemary Burgess-Mullan, et al.
European Journal of Human Genetics : EJHG
|
October 29, 2015
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3
Petra Liskova, Cerys J Evans, Alice E Davidson, et al.
Ophthalmology
|
June 18, 2013
The clinical effect of homozygous ABCA4 alleles in 18 patients
Kaoru Fujinami, Panagiotis I Sergouniotis, Alice E Davidson, et al.
Human Mutation
|
February 14, 2015
Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED)
Frida Jonsson, Berit Byström, Alice E Davidson, et al.
Acta Ophthalmologica
|
October 13, 2021
Novel disease-causing variants and phenotypic features of X-linked megalocornea
Lubica Dudakova, Stephen Tuft, Sek-Shir Cheong, et al.
Human Mutation
|
January 3, 2013
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
Alice E Davidson, Panagiotis I Sergouniotis, Donna S Mackay, et al.
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of 7