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defectivity
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MUDr. Martina Suková
External person at Second Faculty of Medicine
35 publications
Publications
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
Deficit of GATA-2 transcription factor: new immunodeficiency syndrome with broad phenotype. First patients diagnosed in the Czech Republic and review of the literature
2013 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Pilsen, Second Faculty of Medicine
publication
Survey of patients diagnosed with X-linked lymphoproliferation disease (XLP) in the Czech Republic and Slovakia
2013 |
Second Faculty of Medicine
publication
Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry
2011 |
Publication without faculty affiliation
publication
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome
2024 |
Second Faculty of Medicine
publication
Severe Acute Kidney Injury in Children as a Rare Complication of Paroxysmal Cold Hemoglobinuria
2023 |
Second Faculty of Medicine, Central Library of Charles University
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
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