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RNDr. Karolina Škvárová Ph.D.
Academic staff at Second Faculty of Medicine
20 publications
Publications
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
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
Low HOX gene expression in PML-RAR-positive leukemia results from suppressed histone demethylation
2018 |
Second Faculty of Medicine, Central Library of Charles University
publication
CRISPR/Cas9-Mediated Correction of the FANCD1 Gene in Primary Patient Cells
2017 |
Second Faculty of Medicine
publication
Wilms tumor gene 1 (WT1), TP53, RAS/BRAF and KIT aberrations in testicular germ cell tumors
2016 |
Second Faculty of Medicine, First Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
publication
Homeobox gene expression in acute myeloid leukemia is linked to typical underlying molecular aberrations
2014 |
Second Faculty of Medicine
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
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