Publications
- Diagnostic possibilities of Prader-Willi and of Angelman syndromes2005 | Second Faculty of Medicine
- Spinocerebellar ataxias. Part II. Problematics of autosomal dominant spinocerebellar ataxias2001 | Second Faculty of Medicine
- Hereditary ataxias in the Czech Republic1998 | Second Faculty of Medicine, Central Library of Charles University
- Longitudinal and multidisciplinar care about the patients and families suffering from proximal muscular dystrophyPublication without faculty affiliation
- Correlation neurophysiological and molecular genetic findings in SCA patientsPublication without faculty affiliation
- Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly2018 | Second Faculty of Medicine, First Faculty of Medicine
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy2017 | Second Faculty of Medicine
- Array comparative genome hybridization in patients with developmental delay: two example cases2012 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- The importance of advanced parental age in the origin of neurofibromatosis type 12012 | Second Faculty of Medicine
- Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the LMNA Gene2009 | Second Faculty of Medicine
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