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nonsense mutation
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Mgr. Jana Jedličková Ph.D.
External academic staff at First Faculty of Medicine
14 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
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
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
Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant
2022 |
First Faculty of Medicine
publication
Primary Open-Angle Glaucoma due to Mutations in the MYOC Gene
2022 |
First Faculty of Medicine
publication
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders
2021 |
First Faculty of Medicine
publication
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications
2020 |
First Faculty of Medicine, Second Faculty of Medicine
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