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
- Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin2022 | 1. lékařská fakulta
- The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project2022 | 1. lékařská fakulta
- Po stopách genetických příčin chronického onemocnění ledvin2021 | 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
- Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy2019 | 1. lékařská fakulta
- Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland2019 | 1. lékařská fakulta
- Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease2018 | 1. lékařská fakulta, 2. lékařská fakulta
- Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation2018 | 1. lékařská fakulta
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