Publications
- A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation2023 | Second Faculty of Medicine
- Both 17q12 duplication and deletion detected in the patient with normal phenotype and their segregation in family with variably affected members2020 | Second Faculty of Medicine
- Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects2018 | Second Faculty of Medicine
- CNVs in patients with epilepsy - Czech experiencePublication without faculty affiliation
- Intronic microduplications of RBFOX1 gene and their phenotypic consequencesPublication without faculty affiliation
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease2023 | Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine, First Faculty of Medicine
- Genetic testing in children enrolled in epilepsy surgery program. A real-life study2023 | Second Faculty of Medicine, Central Library of Charles University
- Importance of Down syndrome in haematology2022 | Second Faculty of Medicine, Central Library of Charles University
- "Two-hit" model a spojitost s rozvojem epilepsie...aneb Když jedna varianta nestačí2022 | Second Faculty of Medicine
- Genetic Testing for Malformations of Cortical Development2022 | Second Faculty of Medicine
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