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
- 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
- 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
- FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism2010 | Second Faculty of Medicine
- A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 172007 | Second Faculty of Medicine
- Syndrome of the fragile x chromosome with Tremor/Ataxia (FXTAS): a pilot study in a group of patients with ataxia of unknown aetiology2007 | 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 of the growth dynamics and body compositon during growth hormone treatment2005 | Second Faculty of Medicine
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