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1 . Academic Journal
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
저자
by
Alison J. Hardcastle
;
Petra Liskova
;
Yelena Bykhovskaya
;
Bennet J. McComish
;
Alice E. Davidson
, et al.
소스
Communications Biology, Vol 4, Iss 1, Pp 1-13 (2021)
Open Access (DOAJ)
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7 . Academic Journal
Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant
저자
by
Pavlina Skalicka
;
Jana Jedlickova
;
Ales Horinek
;
Marie Trkova
;
Alice E. Davidson
, et al.
소스
Journal of Clinical Medicine, Vol 11, Iss 17, p 5166 (2022)
Open Access (DOAJ)
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7 . Academic Journal
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
저자
by
Lubica Dudakova
;
Pavlina Skalicka
;
Alice E. Davidson
;
Amanda N. Sadan
;
Monika Chylova
, et al.
소스
Genes, Vol 12, Iss 12, p 1918 (2021)
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7 . Academic Journal
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles
저자
by
Lubica Dudakova
;
Viktor Stranecky
;
Lenka Piherova
;
Tomas Palecek
;
Nikolas Pontikos
, et al.
소스
Genes, Vol 12, Iss 5, p 677 (2021)
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Scopus
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7 .
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy
저자
by
Siyin Liu
;
Amanda N. Sadan
;
Kirithika Muthusamy
;
Christina Zarouchlioti
;
Jana Jedlickova
, et al.
소스
Acta Ophthalmologica
.
Full Text (Wiley)
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7 .
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
저자
by
Marketa Tesarova
;
Pavlina Skalicka
;
Alice E. Davidson
;
Nicole Anteneova
;
Amanda N. Sadan
, et al.
소스
Genes
Genes; Volume 12; Issue 12; Pages: 1918
Genes, Vol 12, Iss 1918, p 1918 (2021)
Open Access (OpenAIRE)
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7 .
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat
저자
by
Yu-Chih Tsai
;
Stephen J. Tuft
;
Tyson A. Clark
;
Alice E. Davidson
;
Geoffrey J. Maher
, et al.
소스
Genetics in Medicine
Full Text (ScienceDirect O/A)
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7 .
CUGC for posterior polymorphous corneal dystrophy (PPCD)
저자
by
Nikolas Pontikos
;
Nathaniel J. Hafford-Tear
;
Lubica Dudakova
;
Alice E. Davidson
;
Petra Liskova
, et al.
소스
European Journal of Human Genetics
. 28:126-131
Open Access (OpenAIRE)
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7 .
Novel disease-causing variants and phenotypic features of X-linked megalocornea
저자
by
Alice E. Davidson
;
Manuela Vaneckova
;
Stephen J. Tuft
;
Jana Jedlickova
;
Martin Hlozanek
, et al.
소스
Acta ophthalmologicaReferences
. 100(4)
Full Text (Wiley)
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7 .
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis
저자
by
Karla E. Rojas Lopez
;
Nathalie Voide
;
Nikolas Pontikos
;
Petra Liskova
;
Alison J. Hardcastle
, et al.
소스
Experimental Eye Research
. 182:160-166
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