Publications
- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | Second Faculty of Medicine
- Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood2022 | Second 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
- Centromere-specific multicolour FISH - method for the identification of marker-chromosomes : case report demonstrating our first experiencesPublication without faculty affiliation
- Complex chromosomal rearrangement in the boy from the high-risk pregnancy - case reportPublication without faculty affiliation
- CNVs in patients with epilepsy - Czech experiencePublication without faculty affiliation
- Intronic microduplications of RBFOX1 gene and their phenotypic consequencesPublication without faculty affiliation
- Genetic testing in children enrolled in epilepsy surgery program. A real-life study2023 | Second Faculty of Medicine, Central Library of Charles University
- Genetic Testing for Malformations of Cortical Development2022 | Second Faculty of Medicine
- Monozygotic twins with Legius syndrome and differential diagnosis of Legius syndrome and neurof bromatosis type 12021 | Second Faculty of Medicine
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