Publications
- 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
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, 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, 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
- Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)2010 | Second Faculty of Medicine, Central Library of Charles University
- Double Heterozygosity with Mutations Involving both the GJB2 and GJB6 Genes is a Possible, but very Rare, Cause of Congenital Deafness in the Czech Population2005 | 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
- Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness2004 | First Faculty of Medicine, Faculty of Physical Education and Sport, 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
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