Publications
- Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic2023 | Second Faculty of Medicine
- TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins2022 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Mathematics and Physics
- Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions2020 | Central Library of Charles University
- A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature2016 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood2015 | Second Faculty of Medicine, Third Faculty of Medicine
- Augmenting Clinical Interpretability of Thiopurine Methyltransferase Laboratory Evaluation2014 | Second Faculty of Medicine
- Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios2014 | Publication without faculty affiliation
- Deficit of GATA-2 transcription factor: new immunodeficiency syndrome with broad phenotype. First patients diagnosed in the Czech Republic and review of the literature2013 | First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Pilsen, Second Faculty of Medicine
- SNP Array and Phenotype Correlation Shows That FLI1 Deletion Per se is Not Responsible for Thrombocytopenia Development in Jacobsen Syndrome2012 | Publication without faculty affiliation
- Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome2024 | Second Faculty of Medicine
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