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
- FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism2010 | Second Faculty of Medicine
- Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism2008 | Second Faculty of Medicine
- A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 172007 | Second Faculty of Medicine
- Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation2006 | Second Faculty of Medicine
- 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
- 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
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