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
- Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes2013 | 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
- Subtypes of autism by cluster analysis based on structural MRI data2005 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Prader-Willi Syndrome: Changes in Growth Dynamics and Body Composition during Treatment with Growth Hormone2005 | Second Faculty of Medicine
- Not EEG abnormalities but epilepsy is associated with autistic regression and mental functioning in childhood autism2004 | Second Faculty of Medicine
- DNA diagnosis of the fragile X chromosome syndrome - FRAXA using PCR1998 | Second Faculty of Medicine
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | Second Faculty of Medicine, First Faculty of Medicine
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