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Sanger sequencing
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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
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis
2019 |
First Faculty of Medicine, Third 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
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
Early Detection of Bilateral Cataracts In Utero May Represent a Manifestation of Severe Congenital Disease
2016 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants
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
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