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Genetics
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MUDr. Martina Suková
External person at Second Faculty of Medicine
35 publications
Publications
publication
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome
2024 |
Second Faculty of Medicine
publication
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic
2023 |
Second Faculty of Medicine
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
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions
2020 |
Central Library of Charles University
publication
Fanconi anemia in the Czech Republic: Role of HSCT and long-term follow-up
2020 |
Second Faculty of Medicine
publication
A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature
2016 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood
2015 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia
2013 |
Second Faculty of Medicine
publication
Venous thrombosis in children with acute lymphoblastic leukaemia
2012 |
Second Faculty of Medicine
publication
Hemophagocytic lymphohistiocytosis syndrome
2010 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
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