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molecular genetics
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MUDr. Pavlína Skalická Ph.D.
Academic staff at First Faculty of Medicine
71 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
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
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
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
Analysis of KERA in four families with cornea plana identifies two novel mutations
2018 |
First Faculty of Medicine
publication
Active transforming growth factor-beta 2 in the aqueous humor of posterior polymorphous corneal dystrophy patients
2017 |
First Faculty of Medicine
publication
Clinical Findings in Members of a Czech Family with Retinitis Pigmentosa Caused by the c.2426_2427delAG Mutation in RPGR
2013 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
publication
Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family
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
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1
2024 |
First Faculty of Medicine
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