Publications
- Molecular-pathologic and genetic diagnostics of limb girdle muscular dystrophy LGMD2A: presentation of first cases diagnosed in the Czech Republic2004 | Second Faculty of Medicine
- Longitudinal and multidisciplinar care about the patients and families suffering from proximal muscular dystrophyPublication 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
- Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene2009 | Second Faculty of Medicine
- Point mutations in Czech DMD/BMD patients and their phenotypic outcome2009 | Second Faculty of Medicine
- Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 12007 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
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