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Under-reporting
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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
Ocular complications in atopic dermatitis and a case study of a patient with severe ocular complications treated with dupilumab
2020 |
First Faculty of Medicine, Third 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
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
publication
Wegener's granulomatosis with rapidly progressive corneal perforation: a case report
+1
Publication without faculty affiliation
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
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
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