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gene effect
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MUDr. Renata Formánková Ph.D.
Academic staff at Second Faculty of Medicine
64 publications
Publications
publication
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries
2020 |
Second Faculty of Medicine
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
Next-generation sequencing indicates false-positive MRD results and better predicts prognosis after SCT in patients with childhood ALL
2017 |
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
X-linked hyper-IgM syndrome (CD40 ligand deficiency). Patients in the Czech Republic and literature review
2012 |
Second Faculty of Medicine
publication
Interfant 99 - treatment reflecting unique biology of the infant acute lymphoblastic leukemia. The results in the Czech Republic
2009 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Wiskott-Aldrich Syndrome - Disease Requiring Early Transplantation of Hemopoietic Stem Cells
2009 |
Second Faculty of Medicine, Central Library of Charles University
publication
Detectable minimal residual disease before allogeneic hematopoietic stem cell transplantation predicts extremely poor prognosis in children with acute lymphoblastic leukemia
2007 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Problems in Early Establishment of the Diagnosis of Severe Combined Immunodeficiency
2007 |
Second Faculty of Medicine, Central Library of Charles University
publication
Familial haemophagocytic lymphohistiocytosis caused by perforin deficit can be successfully treated by haematopoietic stem cell transplantation - the first diagnosed case in the Czech Republic
2006 |
Second Faculty of Medicine
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