Publications
- Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence2009 | Second Faculty of Medicine
- Williams-Beuren syndrome2000 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Monozygotic Twins with 17q21.31 Microdeletion Syndrome2014 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations2013 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes2013 | Second Faculty of Medicine
- 45,X/46,X,psu dic(Y) Gonadal Dysgenesis: Influence of the Two Cell Lines on the Clinical Phenotype, Including Gonadal Histology2013 | Second Faculty of Medicine
- Common CFTR Haplotypes and Susceptibility to Chronic Pancreatitis and Congenital Bilateral Absence of the Vas Deferens2011 | Second Faculty of Medicine
- Hereditary pancreatitis2009 | Second Faculty of Medicine
- Current Diagnostic Strategies and Overview of Preimplantation, Prenatal and Postnatal DNA Diagnostics of Cystic Fibrosis in the Czech Republic2008 | Second Faculty of Medicine, Third Faculty of Medicine
- anamnézy; defekt jednoho genu2006 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
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