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High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Hiz, Ayse Semra; Oktay, Yavuz; Topf, Ana; Szabo, Nora; Serdal, Gungor; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, Ipek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Ozgor, Bilge


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{
  "URL": "https://aperta.ulakbim.gov.tr/record/271726", 
  "abstract": "\u00d6z bulunamad\u0131.", 
  "author": [
    {
      "family": "Hiz", 
      "given": " Ayse Semra"
    }, 
    {
      "family": "Oktay", 
      "given": " Yavuz"
    }, 
    {
      "family": "Topf", 
      "given": " Ana"
    }, 
    {
      "family": "Szabo", 
      "given": " Nora"
    }, 
    {
      "family": "Serdal", 
      "given": " Gungor"
    }, 
    {
      "family": "Yaramis", 
      "given": " Ahmet"
    }, 
    {
      "family": "Sonmezler", 
      "given": " Ece"
    }, 
    {
      "family": "Matalonga", 
      "given": " Leslie"
    }, 
    {
      "family": "Yis", 
      "given": " Uluc"
    }, 
    {
      "family": "Schon", 
      "given": " Katherine"
    }, 
    {
      "family": "Paramonov", 
      "given": " Ida"
    }, 
    {
      "family": "Kalafatcilar", 
      "given": " Ipek Polat"
    }, 
    {
      "family": "Gao", 
      "given": " Fei"
    }, 
    {
      "family": "Rieger", 
      "given": " Aliz"
    }, 
    {
      "family": "Arslan", 
      "given": " Nur"
    }, 
    {
      "family": "Yilmaz", 
      "given": " Elmasnur"
    }, 
    {
      "family": "Ekinci", 
      "given": " Burcu"
    }, 
    {
      "family": "Edem", 
      "given": " Pinar Pulat"
    }, 
    {
      "family": "Aslan", 
      "given": " Mahmut"
    }, 
    {
      "family": "Ozgor", 
      "given": " Bilge"
    }
  ], 
  "container_title": "EUROPEAN JOURNAL OF HUMAN GENETICS", 
  "id": "271726", 
  "issued": {
    "date-parts": [
      [
        2023, 
        1, 
        1
      ]
    ]
  }, 
  "page": "2", 
  "title": "High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases", 
  "type": "article-journal", 
  "volume": "31"
}
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