Dergi makalesi Açık Erişim

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


MARC21 XML

<?xml version='1.0' encoding='UTF-8'?>
<record xmlns="http://www.loc.gov/MARC21/slim">
  <leader>00000nam##2200000uu#4500</leader>
  <datafield tag="909" ind1="C" ind2="O">
    <subfield code="p">user-tubitak-destekli-proje-yayinlari</subfield>
    <subfield code="o">oai:aperta.ulakbim.gov.tr:271726</subfield>
  </datafield>
  <datafield tag="520" ind1=" " ind2=" ">
    <subfield code="a">Öz bulunamadı.</subfield>
  </datafield>
  <datafield tag="980" ind1=" " ind2=" ">
    <subfield code="a">publication</subfield>
    <subfield code="b">article</subfield>
  </datafield>
  <datafield tag="540" ind1=" " ind2=" ">
    <subfield code="a">Creative Commons Attribution</subfield>
    <subfield code="u">http://www.opendefinition.org/licenses/cc-by</subfield>
  </datafield>
  <datafield tag="773" ind1=" " ind2=" ">
    <subfield code="i">isVersionOf</subfield>
    <subfield code="a">10.48623/aperta.271725</subfield>
    <subfield code="n">doi</subfield>
  </datafield>
  <datafield tag="100" ind1=" " ind2=" ">
    <subfield code="a">Hiz, Ayse Semra</subfield>
  </datafield>
  <datafield tag="856" ind1="4" ind2=" ">
    <subfield code="z">md5:7fc8312eac75f56f9c929d77d105f256</subfield>
    <subfield code="s">401</subfield>
    <subfield code="u">https://aperta.ulakbim.gov.trrecord/271726/files/bib-52a47f9c-ac52-481b-b490-9081e2ae51b8.txt</subfield>
  </datafield>
  <controlfield tag="005">20240607164654.0</controlfield>
  <datafield tag="260" ind1=" " ind2=" ">
    <subfield code="c">2023-01-01</subfield>
  </datafield>
  <datafield tag="024" ind1=" " ind2=" ">
    <subfield code="a">10.48623/aperta.271726</subfield>
    <subfield code="2">doi</subfield>
  </datafield>
  <datafield tag="542" ind1=" " ind2=" ">
    <subfield code="l">open</subfield>
  </datafield>
  <datafield tag="245" ind1=" " ind2=" ">
    <subfield code="a">High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases</subfield>
  </datafield>
  <datafield tag="909" ind1="C" ind2="4">
    <subfield code="v">31</subfield>
    <subfield code="c">2</subfield>
    <subfield code="p">EUROPEAN JOURNAL OF HUMAN GENETICS</subfield>
  </datafield>
  <datafield tag="650" ind1="1" ind2="7">
    <subfield code="a">cc-by</subfield>
    <subfield code="2">opendefinition.org</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Oktay, Yavuz</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Topf, Ana</subfield>
    <subfield code="u">Newcastle Univ, Inst Translat &amp; Clin Res, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne &amp; Wear, England</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Szabo, Nora</subfield>
    <subfield code="u">New St Johns Hosp &amp; Northern Buda United Hosp, Epilepsy Neurol Polyclin Buda Childrens Hosp, Budapest, Hungary</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Serdal, Gungor</subfield>
    <subfield code="u">Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Yaramis, Ahmet</subfield>
    <subfield code="u">Pediat Neurol Clin, Diyarbakir, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Sonmezler, Ece</subfield>
    <subfield code="u">Dokuz Eylul Univ, Izmir Int Biomed &amp; Genome Inst, Izmir, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Matalonga, Leslie</subfield>
    <subfield code="u">Barcelona Inst Sci &amp; Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Yis, Uluc</subfield>
    <subfield code="u">Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Schon, Katherine</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Paramonov, Ida</subfield>
    <subfield code="u">Barcelona Inst Sci &amp; Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Kalafatcilar, Ipek Polat</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Gao, Fei</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Rieger, Aliz</subfield>
    <subfield code="u">Rehabil Ctr Physically Handicapped, Budapest, Hungary</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Arslan, Nur</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Yilmaz, Elmasnur</subfield>
    <subfield code="u">Dokuz Eylul Univ, Izmir Int Biomed &amp; Genome Inst, Izmir, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Ekinci, Burcu</subfield>
    <subfield code="u">Dokuz Eylul Univ, Izmir Int Biomed &amp; Genome Inst, Izmir, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Edem, Pinar Pulat</subfield>
    <subfield code="u">Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Aslan, Mahmut</subfield>
    <subfield code="u">Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkiye</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Ozgor, Bilge</subfield>
    <subfield code="u">Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkiye</subfield>
  </datafield>
  <controlfield tag="001">271726</controlfield>
  <datafield tag="980" ind1=" " ind2=" ">
    <subfield code="a">user-tubitak-destekli-proje-yayinlari</subfield>
  </datafield>
</record>
35
2
görüntülenme
indirilme
Tüm sürümler Bu sürüm
Görüntülenme 3535
İndirme 22
Veri hacmi 802 Bytes802 Bytes
Tekil görüntülenme 3333
Tekil indirme 22

Alıntı yap