- Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease2015 | 1. lékařská fakulta, 2. lékařská fakulta
- Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)2005 | 2. lékařská fakulta
- Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants2021 | 2. lékařská fakulta
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease2023 | 1. lékařská fakulta, 2. lékařská fakulta, 3. lékařská fakulta, Ústřední knihovna
- Recent progress of the ARegPKD registry study on autosomal recessive polycystic kidney disease2017 | 2. lékařská fakulta
- Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease2018 | 2. lékařská fakulta
- Autozomálně recesivní a autozomálně dominantní polycystická choroba ledvin u dětí1999 | 1. lékařská fakulta, 2. lékařská fakulta
- Colorectal cancer risk and patients' survival: influence of polymorphisms in genes somatically mutated in colorectal tumors2014 | 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
- Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD2021 | 2. lékařská fakulta
