Publications
- Male patient with ALG13 associated congenital disorder of glycosylation2021 | Second Faculty of Medicine
- Importance of the integrated test in the Down's syndrome screening algorithm2018 | Second Faculty of Medicine, First Faculty of Medicine
- A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature2018 | Second Faculty of Medicine
- Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers2018 | Second Faculty of Medicine
- Centromere-specific multicolour FISH - method for the identification of marker-chromosomes : case report demonstrating our first experiencesPublication without faculty affiliation
- Two supernumerary marker-chromosomes in a healthy woman: a case reportPublication without faculty affiliation
- Two supernumerary marker-chromosomes in a healthy woman - a case reportPublication without faculty affiliation
- Complex chromosomal rearrangement in the boy from the high-risk pregnancy - case reportPublication without faculty affiliation
- Intronic microduplications of RBFOX1 gene and their phenotypic consequencesPublication without faculty affiliation
- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | Second Faculty of Medicine
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