Publications
- Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus2024 | Faculty of Medicine in Pilsen
- A recurrent synonymous L1CAM variant in a fetus with hydrocephalus2024 | Faculty of Medicine in Pilsen
- Classification of germline variants identified in cancer predisposition genetic testing - consensus of the CZECANCA consortium2023 | Faculty of Medicine in Pilsen, First Faculty of Medicine
- Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus2023 | Faculty of Medicine in Pilsen, Third Faculty of Medicine
- Hereditary renal cell carcinoma syndromes2020 | Faculty of Medicine in Pilsen
- Growth disorders due to rearrangement of SHOX gene locus2019 | Faculty of Medicine in Pilsen
- Molecular Genetic Testing of Diabetes Insipidus Renalis2019 | Faculty of Medicine in Pilsen
- Léri-Weill Syndrome on the Principle of Structural Aberration of Chromosome Y (Case Report)2018 | Faculty of Medicine in Pilsen
- Nález patogenní varianty genu PALB2 v rodině sledované pro nefrogenní diabetes insipidus2018 | Faculty of Medicine in Pilsen
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