Publikace
- Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele2013 | 1. lékařská fakulta
- Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families2013 | 1. lékařská fakulta
- SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis2012 | Přírodovědecká fakulta, 1. lékařská fakulta
- SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Leri-Weill dyschondrosteosis2012 | 1. lékařská fakulta
- Ambulatory blood pressure and hypertension control in children with autosomal recessive polycystic kidney disease: clinical experience from two central European tertiary centres2022 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Improvement of Diagnostic Yield by an Additional Amplicon Module to Hybridization-Based Next-Generation Sequencing Panels2022 | 1. lékařská fakulta
- Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis2020 | 1. lékařská fakulta, 2. lékařská fakulta
- Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene2019 | 1. lékařská fakulta
- Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report2018 | 1. lékařská fakulta
- Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic2018 | 1. lékařská fakulta
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