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PKHD1
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Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease
2015 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)
2005 |
Second Faculty of Medicine
publication
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
2021 |
Second Faculty of Medicine
publication
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
publication
Recent progress of the ARegPKD registry study on autosomal recessive polycystic kidney disease
2017 |
Second Faculty of Medicine
publication
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
2018 |
Second Faculty of Medicine
publication
Autosomal Recessive and Dominant Polycystic Kidney Disease
1999 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Colorectal cancer risk and patients' survival: influence of polymorphisms in genes somatically mutated in colorectal tumors
2014 |
First Faculty of Medicine
publication
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis
2020 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD
2021 |
Second Faculty of Medicine