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
- The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to HNF1 beta Mutations2020 | 1. lékařská fakulta
- Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females2018 | 1. lékařská fakulta
- Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 20222023 | 1. lékařská fakulta, Centrum pro přenos poznatků a technologií
- Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease2023 | 1. lékařská fakulta
- Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis2023 | 1. lékařská fakulta
- MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice2023 | 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
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