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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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      "affiliation": "Newcastle Univ, Inst Translat & Clin Res, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England", 
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      "@type": "Person", 
      "affiliation": "New St Johns Hosp & Northern Buda United Hosp, Epilepsy Neurol Polyclin Buda Childrens Hosp, Budapest, Hungary", 
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      "affiliation": "Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkiye", 
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      "affiliation": "Pediat Neurol Clin, Diyarbakir, Turkiye", 
      "name": "Yaramis, Ahmet"
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      "affiliation": "Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, Izmir, Turkiye", 
      "name": "Sonmezler, Ece"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain", 
      "name": "Matalonga, Leslie"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkiye", 
      "name": "Yis, Uluc"
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      "name": "Kalafatcilar, Ipek Polat"
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      "name": "Gao, Fei"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Rehabil Ctr Physically Handicapped, Budapest, Hungary", 
      "name": "Rieger, Aliz"
    }, 
    {
      "@type": "Person", 
      "name": "Arslan, Nur"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, Izmir, Turkiye", 
      "name": "Yilmaz, Elmasnur"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, Izmir, Turkiye", 
      "name": "Ekinci, Burcu"
    }, 
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      "affiliation": "Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkiye", 
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      "affiliation": "Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkiye", 
      "name": "Aslan, Mahmut"
    }, 
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      "@type": "Person", 
      "affiliation": "Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkiye", 
      "name": "Ozgor, Bilge"
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  "datePublished": "2023-01-01", 
  "description": "\u00d6z bulunamad\u0131.", 
  "headline": "High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases", 
  "identifier": 271726, 
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  "name": "High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases", 
  "url": "https://aperta.ulakbim.gov.tr/record/271726"
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