Publications
- Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 12007 | Second Faculty of Medicine
- Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients2006 | Second Faculty of Medicine
- First cases in the Czech Republic of the Hallervorden-Spatz Disease resulting from mutation in the Pantothenate Kinase 2 Gene +12005 | Second Faculty of Medicine
- Diagnostic possibilities of Prader-Willi and of Angelman syndromes2005 | Second Faculty of Medicine
- Molecular-pathologic and genetic diagnostics of limb girdle muscular dystrophy LGMD2A: presentation of first cases diagnosed in the Czech Republic2004 | Second Faculty of Medicine
- Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome2004 | 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
- A method for detection of germinal mutations in the p53 tumor suppressor gene1996 | 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
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