- Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 12014 | 1. lékařská fakulta
- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing2013 | 1. lékařská fakulta
- Dědičná intersticiální onemocnění ledvin2010 | 1. lékařská fakulta
- Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report2015 | 1. lékařská fakulta
- Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation2018 | 1. lékařská fakulta
- Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease2016 | 1. lékařská fakulta
- Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome2006 | 1. lékařská fakulta
- Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q412005 | 1. lékařská fakulta