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Ing. Ľubica Ďuďáková Ph.D.
Academic staff at First Faculty of Medicine
65 publications
Publications
publication
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles
2021 |
First Faculty of Medicine
publication
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years
2020 |
First Faculty of Medicine
publication
Brittle cornea syndrome : Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years
2020 |
First Faculty of Medicine
publication
Congenital fibrosis of the extraocular muscles in a Czech family and its molecular genetic cause
2019 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3
2019 |
First Faculty of Medicine
publication
Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization
2018 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
publication
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1
2018 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene
2018 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Analysis of KERA in four families with cornea plana identifies two novel mutations
2018 |
First Faculty of Medicine
publication
Rare eye disorders in daily ophthalmic clinic
2018 |
First Faculty of Medicine
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