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
- Autism - autism spectrum disorders2014 | Second Faculty of Medicine
- A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 172007 | Second Faculty of Medicine
- Diagnostic possibilities of Prader-Willi and of Angelman syndromes2005 | Second Faculty of Medicine
- Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman2005 | Second Faculty of Medicine
- The Genetics of Autism2002 | Second Faculty of Medicine
- New possibilities of combined screening for congenital anomalies in the 1st trimester.Publication without faculty affiliation
- 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
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