- HIF2A gain-of-function mutations detected in duodenal gangliocytic paraganglioma2016 | Faculty of Medicine in Hradec Králové
- Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint2013 | First Faculty of Medicine
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy2015 | Second Faculty of Medicine
- Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome2014 | Second Faculty of Medicine
- Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation2018 | First Faculty of Medicine, Second Faculty of Medicine
- Macrovascular involvement in a child with atypical hemolytic uremic syndrome2014 | Second Faculty of Medicine
- Pacak-Zhuang Syndrome: A New Kid on The Block2014 | Second Faculty of Medicine
- Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension2013 | Faculty of Medicine in Hradec Králové
- Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase delta syndrome2014 | Second Faculty of Medicine
- Lurcher Mouse2013 | Faculty of Medicine in Pilsen
- Modeling tumorigenesis in Drosophila: Current Advances and Future Perspectives2013 | First Faculty of Medicine
- Cutis laxa and excessive bone growth due to de novo mutations in PTDSS12018 | Second Faculty of Medicine
- Arabidopsis exocyst subunits SEC8 and EXO70A1 and exocyst interactor ROH1 are involved in the localized deposition of seed coat pectin2010 | Faculty of Science, Central Library of Charles University
- CRAC channel opening is determined by a series of Orai1 gating checkpoints in the transmembrane and cytosolic regions2021 | Faculty of Mathematics and Physics
- Structural modeling and patch-clamp analysis of pain-related mutation TRPA1-N855S reveal inter-subunit salt bridges stabilizing the channel open state2015 | Faculty of Science, Faculty of Mathematics and Physics
- Clinical spectrum and features of activated phosphoinositide 3-kinase delta syndrome: A large patient cohort study2017 | Second Faculty of Medicine
- Macrodactyly of hand and coincidence with a mild form of Poland syndrome: A review and case report of a Czech boy2023 | First Faculty of Medicine, Central Library of Charles University
- Palmitoylation Controls NMDA Receptor Function and Steroid Sensitivity2021 | First Faculty of Medicine, Central Library of Charles University