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tyrosinemia type 1
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MUDr. Pavlína Skalická Ph.D.
Academic staff at First Faculty of Medicine
71 publications
Publications
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
publication
Ocular complications of peripheral facial nerve palsy and their therapeutic possibilities
2023 |
First Faculty of Medicine
publication
Novel disease-causing variants and phenotypic features of X-linked megalocornea
2022 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy
2022 |
First Faculty of Medicine
publication
Presence of Protease Inhibitor 9 and Granzyme B in Healthy and Pathological Human Corneas
2022 |
First Faculty of Medicine
publication
Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant
2022 |
First Faculty of Medicine
publication
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
2021 |
First Faculty of Medicine
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