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Human well-being
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Ing. Ľubica Ďuďáková Ph.D.
Academic staff at First Faculty of Medicine
65 publications
Publications
publication
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders
2021 |
First Faculty of Medicine
publication
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
2020 |
First Faculty of Medicine
publication
The presence of lysyl oxidase-like enzymes in human control and keratoconic corneas
2016 |
First Faculty of Medicine
publication
The OV-TL 12/30 Clone of Anti-cytokeratin 7 Antibody as a New Marker of Corneal Conjunctivalization in Patients with Limbal Stem Cell Deficiency
2011 |
First Faculty of Medicine
publication
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
2024 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Axenfeld-Rieger syndrome: more than meets the eye
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy
2023 |
First Faculty of Medicine, Third Faculty of Medicine
publication
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
2023 |
First Faculty of Medicine
publication
Novel disease-causing variants and phenotypic features of X-linked megalocornea
2022 |
First Faculty of Medicine, Second Faculty of Medicine
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