Publikace
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | 1. lékařská fakulta, 2. lékařská fakulta
- Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes2018 | 1. lékařská fakulta
- Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL22016 | 1. lékařská fakulta
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | 1. lékařská fakulta
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | 1. lékařská fakulta
- Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 20222023 | 1. lékařská fakulta, Centrum pro přenos poznatků a technologií
- A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis2022 | 1. lékařská fakulta, 3. lékařská fakulta
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | 1. lékařská fakulta, 3. lékařská fakulta
- POLRMT mutations impair mitochondrial transcription causing neurological disease2021 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations2021 | 1. lékařská fakulta, Lékařská fakulta v Plzni
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