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geneticky
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prof. MUDr. Petra Lišková M.D., Ph.D.
Academic staff at First Faculty of Medicine
155 publications
Publications
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 Medicine in Hradec Králové, Faculty of Physical Education and Sport
publication
Corneal dystrophies
2012 |
First Faculty of Medicine
publication
Keratoconus in 18 pairs of twins
2012 |
First Faculty of Medicine
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
publication
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
2023 |
First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
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
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma
2023 |
First Faculty of Medicine, Second Faculty of Medicine
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