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
- 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
- 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
- Ověření nálezu změn metylace z analýzy MS-MLPA metodou přímé Sangerovy sekvenace po bisulfitové konverzi – optimalizace pro diagnostiku2023 | Second Faculty of Medicine
- A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies2019 | Second Faculty of Medicine, Central Library of Charles University
- Diagnostika dědičných kardiovaskulárních onemocnění: pohled molekulárního genetika a cytogenetika2019 | Second Faculty of Medicine
- Jak interpretovat genetické vyšetření v éře sekvenování nové generace2019 | Second Faculty of Medicine
Loading network view...