Publications
- A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications2014 | Second Faculty of Medicine
- Diagnostic possibilities of Prader-Willi and of Angelman syndromes2005 | Second Faculty of Medicine
- Medical genetics in reproductive medicine2002 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Rapid prenatal diagnosis of the most frequent chromosome-induced congenital defects by quantitative fluorescent PCR1998 | Second Faculty of Medicine
- CNVs in patients with epilepsy - Czech experiencePublication without faculty affiliation
- Complex cytogenetic and molecular genetic diagnostics of congenital heart defectsPublication without faculty affiliation
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | Second Faculty of Medicine, First Faculty of Medicine
- 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 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
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