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Ing. Ľubica Ďuďáková Ph.D.
Academic staff at First Faculty of Medicine
65 publications
Publications
publication
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
2021 |
First Faculty of Medicine
publication
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders
2021 |
First Faculty of Medicine
publication
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract
2020 |
First Faculty of Medicine
publication
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity
2018 |
First Faculty of Medicine
publication
OPA1 analysis in an international series of probands with bilateral optic atrophy
2017 |
First Faculty of Medicine
publication
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
2016 |
First Faculty of Medicine
publication
Validation of rs2956540:G > C and rs3735520:G > A association with keratoconus in a population of European descent
2015 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3
2015 |
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
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