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Activating mutation
Person
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MUDr. Renata Formánková Ph.D.
Academic staff at Second Faculty of Medicine
64 publications
Publications
publication
JAK-inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID and EBMT IEWP retrospective study
2024 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Survival in primary hemophagocytic lymphohistiocytosis 2016-2021: etoposide is better than its reputation
2024 |
Second Faculty of Medicine
publication
Hematopoietic stem cell transplantation in children with inborn errors of metabolism and malignant infantile osteopetrosis
2022 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Hematopoietic cell transplantation in severe combined immunodeficiency: the SCETIDE 2006-2014 European cohort
2022 |
Second Faculty of Medicine
publication
Stem Cell Transplantation for Diamond-Blackfan Anemia. A Retrospective Study on Behalf of the Severe Aplastic Anemia Working Party of the European Blood and Marrow Transplantation Group (EBMT)
2021 |
Second Faculty of Medicine
publication
Thyroid dysfunction in patients undergoing allogeneic stem cell transplantation in childhood and adolescence, thirty years follow-up
2021 |
Second Faculty of Medicine
publication
Severe combined immunodeficiency with atypical phenotype - case report
2020 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Selhání střeva u dětí
2020 |
Second Faculty of Medicine, Central Library of Charles University
publication
EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children
2020 |
Second Faculty of Medicine
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
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