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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


Citation Style Language JSON

{
  "DOI": "10.1002/mgg3.217", 
  "abstract": "Background", 
  "author": [
    {
      "family": "Djemie", 
      "given": " Tania"
    }, 
    {
      "family": "Weckhuysen", 
      "given": " Sarah"
    }, 
    {
      "family": "von Spiczak", 
      "given": " Sarah"
    }, 
    {
      "family": "Carvill", 
      "given": " Gemma L."
    }, 
    {
      "family": "Jaehn", 
      "given": " Johanna"
    }, 
    {
      "family": "Anttonen", 
      "given": " Anna-Kaisa"
    }, 
    {
      "family": "Brilstra", 
      "given": " Eva"
    }, 
    {
      "family": "Caglayan", 
      "given": " Hande S."
    }, 
    {
      "family": "de Kovel", 
      "given": " Carolien G."
    }, 
    {
      "family": "Depienne", 
      "given": " Christel"
    }, 
    {
      "family": "Gaily", 
      "given": " Eija"
    }, 
    {
      "family": "Hamalainen", 
      "given": " Eija"
    }, 
    {
      "family": "Giraldez", 
      "given": " Beatriz G."
    }, 
    {
      "family": "Gormley", 
      "given": " Padhraig"
    }, 
    {
      "family": "Guerrero-Lopez", 
      "given": " Rosa"
    }, 
    {
      "family": "Guerrini", 
      "given": " Renzo"
    }, 
    {
      "family": "Hamalainen", 
      "given": " Eija"
    }, 
    {
      "family": "Hartmann", 
      "given": " Corinna"
    }, 
    {
      "family": "Hernandez-Hernandez", 
      "given": " Laura"
    }, 
    {
      "family": "Hjalgrim", 
      "given": " Helle"
    }, 
    {
      "family": "Hjalgrim", 
      "given": " Helle"
    }
  ], 
  "container_title": "MOLECULAR GENETICS & GENOMIC MEDICINE", 
  "id": "60339", 
  "issue": "4", 
  "issued": {
    "date-parts": [
      [
        2016, 
        1, 
        1
      ]
    ]
  }, 
  "page": "457-464", 
  "title": "Pitfalls in genetic testing: the story of missed SCN1A mutations", 
  "type": "article-journal", 
  "volume": "4"
}
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