Publications
- 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, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Tuberous Sclerosis Complex in children followed from neonatal period for prenatally diagnosed cardiac rhabdomyoma - two case reports2013 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease2005 | Second Faculty of Medicine
- Pelizaeus Merzbacher's disease (PMD) - Detection of the most frequent mutation of the proteolipid protein gene in Czech patients and families with the classical form of PAID2003 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Genetic heterogeneity of megacystis-microcolon-intestinal hypoperistalsis syndromePublication without faculty affiliation
- Two novel variants of the MBTPS1 gene in Czech family with Kondo-Fu type spondyloepiphyseal dysplasia and cataract2023 | First Faculty of Medicine, Second Faculty of Medicine
- Ectodermal dysplasia: important role of complex dental care in its interdisciplinary management2022 | Second Faculty of Medicine
- Fanconi anemia in the Czech Republic: Role of HSCT and long-term follow-up2020 | Second Faculty of Medicine
- Inherited ichthyoses: molecular causes of the disease in Czech patients2019 | Publication without faculty affiliation
- Cutis laxa and excessive bone growth due to de novo mutations in PTDSS12018 | Second Faculty of Medicine
Loading network view...
