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prof. MUDr. Petra Lišková M.D., Ph.D.
Academic staff at First Faculty of Medicine
155 publications
Publications
publication
Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder
2013 |
First Faculty of Medicine
publication
Minimal Ocular Findings in a Patient with Best Disease Caused by the c.653G>A Mutation in BEST1
2011 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Minimal ocular findings in a patient with Best disease caused by the c.653>A mutation in Best 1
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
publication
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes
+1
2023 |
First Faculty of Medicine, Faculty of Science
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