Publications
Total number of publications: 50
2022
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Sekvenční varianty v genu TTN a jejich asociace s neuromuskulárními onemocněními.
Year: 2022, type: Conference abstract
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Titin - ukázka komplexního hodnocení významnosti variant
Year: 2022, type: Conference abstract
2021
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ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
BMC OPHTHALMOLOGY, year: 2021, volume: 21, edition: 1, DOI
2017
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Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic
Clinical Genetics, year: 2017, volume: 91, edition: 3, DOI
2014
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Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
BMC Neurology, year: 2014, volume: 14, edition: August, DOI
2013
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
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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