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Ing. Ľubica Ďuďáková Ph.D.
Academic staff at First Faculty of Medicine
65 publications
Publications
publication
Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant
2020 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications
2020 |
First Faculty of Medicine, Second 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
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract
2020 |
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
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
Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty
2019 |
First Faculty of Medicine
publication
IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing
2019 |
First 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
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