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geneticky
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Ing. Ľubica Ďuďáková Ph.D.
Academic staff at First Faculty of Medicine
65 publications
Publications
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
Molecular genetic cause of achromatopsia in two patients of Czech origin
2019 |
First Faculty of Medicine, Central Library of Charles University
publication
Rare eye disorders in daily ophthalmic clinic
2018 |
First Faculty of Medicine
publication
Clinical Tests Testing New Therapies for Stargardt Disease
2016 |
First Faculty of Medicine
publication
Preimplantation genetic diagnosis and monogenic inherited eye diseases
2016 |
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
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