Publikace
- Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations2020 | 1. lékařská fakulta
- An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes2020 | 1. lékařská fakulta
- Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland2019 | 1. lékařská fakulta
- Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation2018 | 1. lékařská fakulta
- Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females2018 | 1. lékařská fakulta
- Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report2018 | 1. lékařská fakulta
- Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease2018 | 1. lékařská fakulta
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | 1. lékařská fakulta
- Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease2023 | 1. lékařská fakulta
- Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family2023 | 1. lékařská fakulta
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