Publikace
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu, Lékařská fakulta v Hradci 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 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation2016 | 2. lékařská fakulta
- Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease2015 | 1. lékařská fakulta, 2. lékařská fakulta
- Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations2013 | 2. lékařská fakulta
- Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing2012 | 2. lékařská fakulta
- Our experience with analysis of the PTEN gene in patients suspected of having Cowden syndrome2010 | 2. lékařská fakulta
- Germline variants of the promyelocytic leukemia tumor suppressor gene in patients with familial cancer2009 | 2. lékařská fakulta
- Mutations in STK11 gene in Czech Peutz-Jeghers patients2009 | 2. lékařská fakulta
- A novel mutation of PTEN gene in a patient with Cowden syndrome with excessive papillomatosis of the lips, discrete cutaneous lesions, and gastrointestinal polyposis2007 | 2. lékařská fakulta
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