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Pitfalls in genetic testing: the story of missed SCN1A mutations

Djemie, Tania; Weckhuysen, Sarah; von Spiczak, Sarah; Carvill, Gemma L.; Jaehn, Johanna; Anttonen, Anna-Kaisa; Brilstra, Eva; Caglayan, Hande S.; de Kovel, Carolien G.; Depienne, Christel; Gaily, Eija; Hamalainen, Eija; Giraldez, Beatriz G.; Gormley, Padhraig; Guerrero-Lopez, Rosa; Guerrini, Renzo; Hamalainen, Eija; Hartmann, Corinna; Hernandez-Hernandez, Laura; Hjalgrim, Helle; Hjalgrim, Helle


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      "affiliation": "Univ Med Ctr Schleswig Holstein, Dept Neuropediat, Kiel, Germany", 
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      "affiliation": "Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA", 
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      "affiliation": "VIB, Dept Mol Genet, Neurogenet Grp, Antwerp, Belgium", 
      "name": "Brilstra, Eva"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey", 
      "name": "Caglayan, Hande S."
    }, 
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      "@type": "Person", 
      "affiliation": "Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands", 
      "name": "de Kovel, Carolien G."
    }, 
    {
      "@type": "Person", 
      "name": "Depienne, Christel"
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      "affiliation": "Helsinki Univ Hosp, Dept Pediat Neurol, Helsinki, Finland", 
      "name": "Gaily, Eija"
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    {
      "@type": "Person", 
      "affiliation": "EO Osped Galliera, Genet Lab, Genoa, Italy", 
      "name": "Hamalainen, Eija"
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      "name": "Giraldez, Beatriz G."
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      "@type": "Person", 
      "name": "Gormley, Padhraig"
    }, 
    {
      "@type": "Person", 
      "name": "Guerrero-Lopez, Rosa"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Univ Florence, A Meyer Childrens Hosp, Pediat Neurol & Neurogenet Unit & Labs, Florence, Italy", 
      "name": "Guerrini, Renzo"
    }, 
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      "name": "Hamalainen, Eija"
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    {
      "@type": "Person", 
      "affiliation": "Univ Med Ctr Schleswig Holstein, Dept Neuropediat, Kiel, Germany", 
      "name": "Hartmann, Corinna"
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  "datePublished": "2016-01-01", 
  "description": "Background", 
  "headline": "Pitfalls in genetic testing: the story of missed SCN1A mutations", 
  "identifier": 60339, 
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  "license": "http://www.opendefinition.org/licenses/cc-by", 
  "name": "Pitfalls in genetic testing: the story of missed SCN1A mutations", 
  "url": "https://aperta.ulakbim.gov.tr/record/60339"
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