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monogenic diabetes
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MUDr. Markéta Racková
External person at Second Faculty of Medicine
4 publications
Publications
publication
TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins
2022 |
First Faculty of Medicine, Second 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 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Science, Central Library of Charles University
publication
Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement
2019 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Genome editing using the CRISPR/Cas9 system and its application in haematology
2019 |
Second Faculty of Medicine
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