Publications
- Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion2005 | Second Faculty of Medicine
- Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome2004 | Second Faculty of Medicine
- Case report of patients with a marker chromosome2004 | Second Faculty of Medicine
- Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype1999 | Second Faculty of Medicine
- 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
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