Publications
- Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation2016 | Second Faculty of Medicine
- Inherited ichthyoses: molecular causes of the disease in Czech patients2019 | Publication without faculty affiliation
- Two Cases of CNS Atypical Theratoid Rhabdoid Tumor and Review of Literature2017 | Second Faculty of Medicine
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
- Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis of the disease2016 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children2016 | Second Faculty of Medicine
- Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene - Case Report2016 | Second Faculty of Medicine
- Hepatoblastoma, etiology, case reports2016 | Second Faculty of Medicine
- Rare tumours in oncology2015 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease2015 | First Faculty of Medicine, Second Faculty of Medicine
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