Publications
- 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
- Hypophosphatasia due to uniparental disomy2015 | Second Faculty of Medicine
- Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations2013 | Second Faculty of Medicine
- Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing2012 | Second Faculty of Medicine
- Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease2009 | Second Faculty of Medicine
- Mutations in STK11 gene in Czech Peutz-Jeghers patients2009 | Second Faculty of Medicine
- Relationship between Genotype and Phenotype in Patients with Microdeletion of Chromosome 22q112001 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Inherited ichthyoses: molecular causes of the disease in Czech patients2019 | Publication without faculty affiliation
- Two Cases of CNS Atypical Theratoid Rhabdoid Tumor and Review of Literature2017 | Second Faculty of Medicine
Loading network view...