Publikace
- Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family2023 | 1. lékařská fakulta
- Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD2023 | 1. lékařská fakulta
- A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis2022 | 1. lékařská fakulta, 3. lékařská fakulta
- Autosomal dominant tubulointerstitial kidney disease: more than just HNF1 beta2022 | 1. lékařská fakulta
- Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin2022 | 1. lékařská fakulta
- Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations2021 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- Po stopách genetických příčin chronického onemocnění ledvin2021 | 1. lékařská fakulta
- Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease2020 | 1. lékařská fakulta
- Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC12020 | 1. lékařská fakulta
- Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations2020 | 1. lékařská fakulta
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