Publikace
- Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations2021 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- Rare copy number variation in extremely impulsively violent males2019 | 1. lékařská fakulta, Ústřední knihovna, Lékařská fakulta v Plzni
- Quality of life in patients with autosomal dominant tubulointerstitial kidney disease2019 | 1. lékařská fakulta
- Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females2018 | 1. lékařská fakulta
- Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model2017 | 1. lékařská fakulta
- Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients2016 | 1. lékařská fakulta
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | 1. lékařská fakulta
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | 1. lékařská fakulta
- Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V2013 | 1. lékařská fakulta
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | 1. lékařská fakulta, 2. lékařská fakulta
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