1 Ocak 2016 Dergi makalesi Açık Erişim

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

DataCite XML

<?xml version='1.0' encoding='utf-8'?>
<resource xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns="http://datacite.org/schema/kernel-4" xsi:schemaLocation="http://datacite.org/schema/kernel-4 http://schema.datacite.org/meta/kernel-4.1/metadata.xsd">
  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/60339</identifier>
  <creators>
    <creator>
      <creatorName>Djemie, Tania</creatorName>
      <givenName>Tania</givenName>
      <familyName>Djemie</familyName>
    </creator>
    <creator>
      <creatorName>Weckhuysen, Sarah</creatorName>
      <givenName>Sarah</givenName>
      <familyName>Weckhuysen</familyName>
    </creator>
    <creator>
      <creatorName>von Spiczak, Sarah</creatorName>
      <givenName>Sarah</givenName>
      <familyName>von Spiczak</familyName>
      <affiliation>Univ Med Ctr Schleswig Holstein, Dept Neuropediat, Kiel, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Carvill, Gemma L.</creatorName>
      <givenName>Gemma L.</givenName>
      <familyName>Carvill</familyName>
      <affiliation>Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Jaehn, Johanna</creatorName>
      <givenName>Johanna</givenName>
      <familyName>Jaehn</familyName>
      <affiliation>Univ Med Ctr Schleswig Holstein, Dept Neuropediat, Kiel, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Anttonen, Anna-Kaisa</creatorName>
      <givenName>Anna-Kaisa</givenName>
      <familyName>Anttonen</familyName>
    </creator>
    <creator>
      <creatorName>Brilstra, Eva</creatorName>
      <givenName>Eva</givenName>
      <familyName>Brilstra</familyName>
      <affiliation>VIB, Dept Mol Genet, Neurogenet Grp, Antwerp, Belgium</affiliation>
    </creator>
    <creator>
      <creatorName>Caglayan, Hande S.</creatorName>
      <givenName>Hande S.</givenName>
      <familyName>Caglayan</familyName>
      <affiliation>Bogazici Univ, Dept Mol Biol &amp; Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>de Kovel, Carolien G.</creatorName>
      <givenName>Carolien G.</givenName>
      <familyName>de Kovel</familyName>
      <affiliation>Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Depienne, Christel</creatorName>
      <givenName>Christel</givenName>
      <familyName>Depienne</familyName>
    </creator>
    <creator>
      <creatorName>Gaily, Eija</creatorName>
      <givenName>Eija</givenName>
      <familyName>Gaily</familyName>
      <affiliation>Helsinki Univ Hosp, Dept Pediat Neurol, Helsinki, Finland</affiliation>
    </creator>
    <creator>
      <creatorName>Hamalainen, Eija</creatorName>
      <givenName>Eija</givenName>
      <familyName>Hamalainen</familyName>
      <affiliation>EO Osped Galliera, Genet Lab, Genoa, Italy</affiliation>
    </creator>
    <creator>
      <creatorName>Giraldez, Beatriz G.</creatorName>
      <givenName>Beatriz G.</givenName>
      <familyName>Giraldez</familyName>
    </creator>
    <creator>
      <creatorName>Gormley, Padhraig</creatorName>
      <givenName>Padhraig</givenName>
      <familyName>Gormley</familyName>
    </creator>
    <creator>
      <creatorName>Guerrero-Lopez, Rosa</creatorName>
      <givenName>Rosa</givenName>
      <familyName>Guerrero-Lopez</familyName>
    </creator>
    <creator>
      <creatorName>Guerrini, Renzo</creatorName>
      <givenName>Renzo</givenName>
      <familyName>Guerrini</familyName>
      <affiliation>Univ Florence, A Meyer Childrens Hosp, Pediat Neurol &amp; Neurogenet Unit &amp; Labs, Florence, Italy</affiliation>
    </creator>
    <creator>
      <creatorName>Hamalainen, Eija</creatorName>
      <givenName>Eija</givenName>
      <familyName>Hamalainen</familyName>
    </creator>
    <creator>
      <creatorName>Hartmann, Corinna</creatorName>
      <givenName>Corinna</givenName>
      <familyName>Hartmann</familyName>
      <affiliation>Univ Med Ctr Schleswig Holstein, Dept Neuropediat, Kiel, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Hernandez-Hernandez, Laura</creatorName>
      <givenName>Laura</givenName>
      <familyName>Hernandez-Hernandez</familyName>
    </creator>
    <creator>
      <creatorName>Hjalgrim, Helle</creatorName>
      <givenName>Helle</givenName>
      <familyName>Hjalgrim</familyName>
    </creator>
    <creator>
      <creatorName>Hjalgrim, Helle</creatorName>
      <givenName>Helle</givenName>
      <familyName>Hjalgrim</familyName>
    </creator>
  </creators>
  <titles>
    <title>Pitfalls In Genetic Testing: The Story Of Missed Scn1A Mutations</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2016</publicationYear>
  <dates>
    <date dateType="Issued">2016-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/60339</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1002/mgg3.217</relatedIdentifier>
  </relatedIdentifiers>
  <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">Background</description>
  </descriptions>
</resource>