1 Ocak 2023 Dergi makalesi Açık Erişim

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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  <identifier identifierType="DOI">10.48623/aperta.271726</identifier>
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    <creator>
      <creatorName>Hiz, Ayse Semra</creatorName>
      <givenName>Ayse Semra</givenName>
      <familyName>Hiz</familyName>
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    <creator>
      <creatorName>Oktay, Yavuz</creatorName>
      <givenName>Yavuz</givenName>
      <familyName>Oktay</familyName>
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    <creator>
      <creatorName>Topf, Ana</creatorName>
      <givenName>Ana</givenName>
      <familyName>Topf</familyName>
      <affiliation>Newcastle Univ, Inst Translat &amp; Clin Res, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne &amp; Wear, England</affiliation>
    </creator>
    <creator>
      <creatorName>Szabo, Nora</creatorName>
      <givenName>Nora</givenName>
      <familyName>Szabo</familyName>
      <affiliation>New St Johns Hosp &amp; Northern Buda United Hosp, Epilepsy Neurol Polyclin Buda Childrens Hosp, Budapest, Hungary</affiliation>
    </creator>
    <creator>
      <creatorName>Serdal, Gungor</creatorName>
      <givenName>Gungor</givenName>
      <familyName>Serdal</familyName>
      <affiliation>Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Yaramis, Ahmet</creatorName>
      <givenName>Ahmet</givenName>
      <familyName>Yaramis</familyName>
      <affiliation>Pediat Neurol Clin, Diyarbakir, Turkiye</affiliation>
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      <creatorName>Sonmezler, Ece</creatorName>
      <givenName>Ece</givenName>
      <familyName>Sonmezler</familyName>
      <affiliation>Dokuz Eylul Univ, Izmir Int Biomed &amp; Genome Inst, Izmir, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Matalonga, Leslie</creatorName>
      <givenName>Leslie</givenName>
      <familyName>Matalonga</familyName>
      <affiliation>Barcelona Inst Sci &amp; Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain</affiliation>
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    <creator>
      <creatorName>Yis, Uluc</creatorName>
      <givenName>Uluc</givenName>
      <familyName>Yis</familyName>
      <affiliation>Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkiye</affiliation>
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      <creatorName>Schon, Katherine</creatorName>
      <givenName>Katherine</givenName>
      <familyName>Schon</familyName>
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      <creatorName>Paramonov, Ida</creatorName>
      <givenName>Ida</givenName>
      <familyName>Paramonov</familyName>
      <affiliation>Barcelona Inst Sci &amp; Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain</affiliation>
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      <creatorName>Kalafatcilar, Ipek Polat</creatorName>
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      <creatorName>Gao, Fei</creatorName>
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      <creatorName>Rieger, Aliz</creatorName>
      <givenName>Aliz</givenName>
      <familyName>Rieger</familyName>
      <affiliation>Rehabil Ctr Physically Handicapped, Budapest, Hungary</affiliation>
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    <creator>
      <creatorName>Arslan, Nur</creatorName>
      <givenName>Nur</givenName>
      <familyName>Arslan</familyName>
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    <creator>
      <creatorName>Yilmaz, Elmasnur</creatorName>
      <givenName>Elmasnur</givenName>
      <familyName>Yilmaz</familyName>
      <affiliation>Dokuz Eylul Univ, Izmir Int Biomed &amp; Genome Inst, Izmir, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Ekinci, Burcu</creatorName>
      <givenName>Burcu</givenName>
      <familyName>Ekinci</familyName>
      <affiliation>Dokuz Eylul Univ, Izmir Int Biomed &amp; Genome Inst, Izmir, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Edem, Pinar Pulat</creatorName>
      <givenName>Pinar Pulat</givenName>
      <familyName>Edem</familyName>
      <affiliation>Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Aslan, Mahmut</creatorName>
      <givenName>Mahmut</givenName>
      <familyName>Aslan</familyName>
      <affiliation>Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkiye</affiliation>
    </creator>
    <creator>
      <creatorName>Ozgor, Bilge</creatorName>
      <givenName>Bilge</givenName>
      <familyName>Ozgor</familyName>
      <affiliation>Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkiye</affiliation>
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  <titles>
    <title>High Diagnostic Rate Of Trio Exome Sequencing In Consanguineous Families With Neurogenetic Diseases</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2023</publicationYear>
  <dates>
    <date dateType="Issued">2023-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/271726</alternateIdentifier>
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  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsVersionOf">10.48623/aperta.271725</relatedIdentifier>
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  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">Öz bulunamadı.</description>
  </descriptions>
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