Total number of publications: 55
2012
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Molekulární diagnostika svalových kanalopatií - analýza genů CLCN1, SCN4A a CACNA1S.
Year: 2012, type: Conference abstract
2011
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Congenital Myotonia Caused by Mutations in the CIC-1 Chloride Channel Gene
Ceska a slovenska neurologie a neurochirurgie, year: 2011, volume: 74, edition: 4
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Spectrum of ClCN1 and SCN4A mutations in Czech patients with non-dystrophic myotonias
Year: 2011, type: Conference abstract
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Spectrum of CLCN1 and SCN4A mutations in Czech patients with non-dystrophic myotonias.
Year: 2011, type: Conference abstract
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Spectrum of point mutations in Czech DMD/BMD patients and their phenotypic outcome
Year: 2011, type: Conference abstract
2010
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Facioskapulohumerální svalová dystrofie – epigenetické mechanizmy a molekulární diagnostika.
Year: 2010, type: Conference abstract
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Mutational analysis of CLCN1 and SCN4A genes in Czech patients with non-dystrophic myotonia
Year: 2010, type: Conference abstract
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Pletencové svalové dystrofie
Year: 2010, type:
2009
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Analysis of the CLCN1 gene in Czech patients with myotonia congenita
Year: 2009, type: Conference abstract
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Analýza genů CLCN1 a SCN4A u pacientů s non-dystrofickou myotonií
Year: 2009, type: Conference abstract