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c disease
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MUDr. Miroslava Balaščaková Ph.D.
External academic staff at Second Faculty of Medicine
38 publications
Publications
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
publication
Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review
2023 |
Second Faculty of Medicine
publication
Genetic Testing for Malformations of Cortical Development
2022 |
Second Faculty of Medicine
publication
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes
2020 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Neonatal case reports
2020 |
Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Early diagnosis of pycnodysostosis in a Czech toddler: a case report
2020 |
Second Faculty of Medicine
publication
Targeted massively parallel sequencing of a representative cohort of Czech patients with various rare aortopathies demonstrates the clinical utility of genetic testing and the need for a multidisciplinary approach to at risk families
2018 |
Second Faculty of Medicine
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