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RUNX1
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RNDr. Karolina Škvárová Ph.D.
Academic staff at Second Faculty of Medicine
20 publications
Publications
publication
Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival
2012 |
Second Faculty of Medicine
publication
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome
2023 |
Second Faculty of Medicine, Central Library of Charles University
publication
TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins
2022 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Mathematics and Physics
publication
The clinical value of circulating free tumor DNA in testicular germ cell tumor patients
2022 |
Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine
publication
Pancreatitis-associated protein as an early marker of asparaginase-associated pancreatitis
2021 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia
2020 |
Second Faculty of Medicine, First Faculty of Medicine, Central Library of Charles University, Faculty of Science
publication
Molecular Basis of Cisplatin Resistance in Testicular Germ Cell Tumors
2019 |
Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine
publication
Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement
2019 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Genome editing using the CRISPR/Cas9 system and its application in haematology
2019 |
Second Faculty of Medicine
publication
Low HOX gene expression in PML-RAR-positive leukemia results from suppressed histone demethylation
2018 |
Second Faculty of Medicine, Central Library of Charles University
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