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MUDr. Miroslava Balaščaková Ph.D.
External academic staff at Second Faculty of Medicine
38 publications
Publications
publication
Genetic causes of malformations of cortical development - novel insights into pathogenesis and diagnostic approach
2022 |
Second Faculty of Medicine
publication
Early diagnosis of pycnodysostosis in a Czech toddler: a case report
2020 |
Second Faculty of Medicine
publication
Duplikace genu PMP22 u pacientky se syndromem Potocki-Lupski
2018 |
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
Complex cytogenetic and molecular genetic diagnostics of congenital heart defects
Publication without faculty affiliation
publication
NPHP3-Related Disease: A Possible Risk Factor for Developing Encapsulating Peritoneal Sclerosis
2024 |
Second Faculty of Medicine
publication
COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome
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
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