Publikace
- Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease2023 | 1. lékařská fakulta, 2. lékařská fakulta
- Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene2019 | 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
- Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report2018 | 1. lékařská fakulta
- Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease2015 | 1. lékařská fakulta, 2. lékařská fakulta
- Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease2014 | 1. lékařská fakulta
- Mutational Analysis of ACTN4, Encoding alpha-Actinin 4, in Patients with Focal Segmental Glomerulosclerosis Using HRM Method2013 | 1. lékařská fakulta
- Mutational Analysis of the NPHS2 Gene in Czech Patients with Idiopathic Nephrotic Syndrome2012 | 1. lékařská fakulta, Lékařská fakulta v Hradci Králové
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