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MUTATIONS
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MUDr. Miroslava Balaščaková Ph.D.
External academic staff at Second Faculty of Medicine
38 publications
Publications
publication
COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Early diagnosis of pycnodysostosis in a Czech toddler: a case report
2020 |
Second Faculty of Medicine
publication
Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations
2013 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
2012 |
Second Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
publication
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia
2011 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia
2011 |
Second Faculty of Medicine
publication
Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease
2009 |
Second Faculty of Medicine
publication
Current Diagnostic Strategies and Overview of Preimplantation, Prenatal and Postnatal DNA Diagnostics of Cystic Fibrosis in the Czech Republic
2008 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Newborn Screening for Cystic Fibrosis in the Czech Republic: Results of a Pilot Study
2007 |
Second Faculty of Medicine
publication
NPHP3-Related Disease: A Possible Risk Factor for Developing Encapsulating Peritoneal Sclerosis
2024 |
Second Faculty of Medicine
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