Publikace
- Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family2023 | 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
- Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease2023 | 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
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | 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
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