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
- Autism - autism spectrum disorders2014 | Second Faculty of Medicine
- Ethical issues of clinical genetics2014 | Second Faculty of Medicine
- Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes2013 | 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
- EuroGentest: an EU-funded Project for Harmonisation and Improvement of the Quality of Genetic Services2007 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 172007 | Second Faculty of Medicine
- Diagnostic possibilities of Prader-Willi and of Angelman syndromes2005 | Second Faculty of Medicine
- Psychosocial factors associated with genetic testing for some of hereditary forms of cancer2003 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
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