Publications
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | First Faculty of Medicine
- Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model2017 | First Faculty of Medicine
- Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients2016 | First Faculty of Medicine
- Assembly of osteoblastic cell micro-arrays on diamond guided by protein pre-adsorption2010 | First Faculty of Medicine
- Preparation, validation and clinical application of an automated test procedure for the determination of Covid-19 in clinical materialPublication without faculty affiliation
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | First Faculty of Medicine, Second Faculty of Medicine
- Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 20222023 | First Faculty of Medicine, Centre for Knowledge and Technology Transfer
- A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis2022 | First Faculty of Medicine, Third Faculty of Medicine
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | First Faculty of Medicine, Third Faculty of Medicine
- POLRMT mutations impair mitochondrial transcription causing neurological disease2021 | First Faculty of Medicine, Faculty of Physical Education and Sport
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