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MUDr. Pavlína Skalická Ph.D.
Academic staff at First Faculty of Medicine
71 publications
Publications
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
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
Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization
2018 |
First Faculty of Medicine, Third Faculty of Medicine, Second 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
Active transforming growth factor-beta 2 in the aqueous humor of posterior polymorphous corneal dystrophy patients
2017 |
First Faculty of Medicine
publication
Diabetic retinopathy - possibilities of pharmacotherapy and progress in treatment
2014 |
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
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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