Publications
- Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 12007 | 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
- 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
- Genetic diagnostics of neurological diseases in Czech republic2002 | Second Faculty of Medicine, Central Library of Charles University
- Hereditary ataxias in the Czech Republic1998 | Second Faculty of Medicine, Central Library of Charles University
- 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
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