Publications
- Inherited ichthyoses: molecular causes of the disease in Czech patients2019 | Publication without faculty affiliation
- 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, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene - Case Report2016 | Second Faculty of Medicine
- Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation2016 | Second 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
- Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype2015 | Second Faculty of Medicine
- Patient with Cowden syndrome caused by mutations in the PTEN gene2014 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Tuberous Sclerosis Complex in children followed from neonatal period for prenatally diagnosed cardiac rhabdomyoma - two case reports2013 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations2013 | Second Faculty of Medicine
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