Publications
- HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain2015 | Second Faculty of Medicine
- Importance of Cerebral Folate Deficiency for Development and Treatment of Autism Spectrum Disorder2014 | Second Faculty of Medicine, Faculty of Physical Education and Sport
- Odor detection threshold, but not odor identification, is impaired in children with autism2011 | Second Faculty of Medicine
- Brief Report: Significant Differences in Perceived Odor Pleasantness Found in Children with ASD2011 | 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
- 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
- Not EEG abnormalities but epilepsy is associated with autistic regression and mental functioning in childhood autism2004 | 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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