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
- 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
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | Second Faculty of Medicine, First Faculty of Medicine
- Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders2024 | Second Faculty of Medicine
- Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models2023 | Second Faculty of Medicine, Faculty of Science
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing2023 | Second Faculty of Medicine
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