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
- Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene2009 | 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
- 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
- Quantitative fluorescent PCR (QFPCR) in the examination of microquantity of fetal cells2002 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Genetic Study of Twenty Patients with Autism Spectrum Disorders2002 | 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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