Publications
- A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes2015 | Second Faculty of Medicine, First Faculty of Medicine
- HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain2015 | Second Faculty of Medicine
- Children autism: a review of current knowledge2014 | Second Faculty of Medicine
- The importance of advanced parental age in the origin of neurofibromatosis type 12012 | Second Faculty of Medicine
- Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene2009 | Second Faculty of Medicine
- A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 172007 | Second Faculty of Medicine
- Syndrome of the fragile x chromosome with Tremor/Ataxia (FXTAS): a pilot study in a group of patients with ataxia of unknown aetiology2007 | Second Faculty of Medicine
- anamnézy; defekt jednoho genu2006 | Second Faculty of Medicine, Central Library of Charles University, First Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine
- Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation2006 | Second Faculty of Medicine
- Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman2005 | Second Faculty of Medicine
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