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
- HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain2015 | Second Faculty of Medicine
- Autism - autism spectrum disorders2014 | Second Faculty of Medicine
- The importance of advanced parental age in the origin of neurofibromatosis type 12012 | 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
- 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
- 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
- Genetic Study of Twenty Patients with Autism Spectrum Disorders2002 | Second Faculty of Medicine
- DNA diagnosis of the fragile X chromosome syndrome - FRAXA using PCR1998 | Second Faculty of Medicine
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