1 Ocak 2019 Dergi makalesi Açık Erişim

Schrauwen, Isabelle; Valgaeren, Hanne; Tomas-Roca, Laura; Sommen, Manou; Altunoglu, Umut; Wesdorp, Mieke; Beyens, Matthias; Fransen, Erik; Nasir, Abdul; Vandeweyer, Geert; Schepers, Anne; Rahmoun, Malika; van Beusekom, Ellen; Huentelman, Matt J.; Offeciers, Erwin; Dhooghe, Ingeborg; Huber, Alex; Van de Heyning, Paul; Zanetti, Diego; De Leenheer, Els M. R.; De Leenheer, Els M. R.

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/70275</identifier>
  <creators>
    <creator>
      <creatorName>Schrauwen, Isabelle</creatorName>
      <givenName>Isabelle</givenName>
      <familyName>Schrauwen</familyName>
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    <creator>
      <creatorName>Valgaeren, Hanne</creatorName>
      <givenName>Hanne</givenName>
      <familyName>Valgaeren</familyName>
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    <creator>
      <creatorName>Tomas-Roca, Laura</creatorName>
      <givenName>Laura</givenName>
      <familyName>Tomas-Roca</familyName>
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    <creator>
      <creatorName>Sommen, Manou</creatorName>
      <givenName>Manou</givenName>
      <familyName>Sommen</familyName>
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    <creator>
      <creatorName>Altunoglu, Umut</creatorName>
      <givenName>Umut</givenName>
      <familyName>Altunoglu</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Wesdorp, Mieke</creatorName>
      <givenName>Mieke</givenName>
      <familyName>Wesdorp</familyName>
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      <creatorName>Beyens, Matthias</creatorName>
      <givenName>Matthias</givenName>
      <familyName>Beyens</familyName>
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      <creatorName>Fransen, Erik</creatorName>
      <givenName>Erik</givenName>
      <familyName>Fransen</familyName>
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    <creator>
      <creatorName>Nasir, Abdul</creatorName>
      <givenName>Abdul</givenName>
      <familyName>Nasir</familyName>
      <affiliation>Ajou Univ, Dept Mol Sci &amp; Technol, Synthet Prot Engn Lab SPEL, Suwon, South Korea</affiliation>
    </creator>
    <creator>
      <creatorName>Vandeweyer, Geert</creatorName>
      <givenName>Geert</givenName>
      <familyName>Vandeweyer</familyName>
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    <creator>
      <creatorName>Schepers, Anne</creatorName>
      <givenName>Anne</givenName>
      <familyName>Schepers</familyName>
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    <creator>
      <creatorName>Rahmoun, Malika</creatorName>
      <givenName>Malika</givenName>
      <familyName>Rahmoun</familyName>
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    <creator>
      <creatorName>van Beusekom, Ellen</creatorName>
      <givenName>Ellen</givenName>
      <familyName>van Beusekom</familyName>
      <affiliation>Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Huentelman, Matt J.</creatorName>
      <givenName>Matt J.</givenName>
      <familyName>Huentelman</familyName>
      <affiliation>Translat Genom Res Inst, Neurogen Div, Phoenix, AZ USA</affiliation>
    </creator>
    <creator>
      <creatorName>Offeciers, Erwin</creatorName>
      <givenName>Erwin</givenName>
      <familyName>Offeciers</familyName>
      <affiliation>St Augustinus Hosp Antwerp, European Inst ORL, Antwerp, Belgium</affiliation>
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    <creator>
      <creatorName>Dhooghe, Ingeborg</creatorName>
      <givenName>Ingeborg</givenName>
      <familyName>Dhooghe</familyName>
      <affiliation>Ghent Univ Hosp, Dept Otolaryngol, Ghent, Belgium</affiliation>
    </creator>
    <creator>
      <creatorName>Huber, Alex</creatorName>
      <givenName>Alex</givenName>
      <familyName>Huber</familyName>
      <affiliation>Univ Hosp Zurich, Dept Otorhinolaryngol Head &amp; Neck Surg, Zurich, Switzerland</affiliation>
    </creator>
    <creator>
      <creatorName>Van de Heyning, Paul</creatorName>
      <givenName>Paul</givenName>
      <familyName>Van de Heyning</familyName>
      <affiliation>Univ Antwerp, Univ Antwerp Hosp, Dept ORL &amp; Head &amp; Neck Surg, Edegem, Belgium</affiliation>
    </creator>
    <creator>
      <creatorName>Zanetti, Diego</creatorName>
      <givenName>Diego</givenName>
      <familyName>Zanetti</familyName>
      <affiliation>Univ Milan, Dept Clin Sci &amp; Community Hlth, Osp Maggiore Policlin, Audiol Unit,IRCCS Fdn Ca Granda, Milan, Italy</affiliation>
    </creator>
    <creator>
      <creatorName>De Leenheer, Els M. R.</creatorName>
      <givenName>Els M. R.</givenName>
      <familyName>De Leenheer</familyName>
    </creator>
    <creator>
      <creatorName>De Leenheer, Els M. R.</creatorName>
      <givenName>Els M. R.</givenName>
      <familyName>De Leenheer</familyName>
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  </creators>
  <titles>
    <title>Variants Affecting Diverse Domains Of Mepe Are Associated With Two Distinct Bone Disorders, A Craniofacial Bone Defect And Otosclerosis</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2019</publicationYear>
  <dates>
    <date dateType="Issued">2019-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/70275</alternateIdentifier>
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  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1038/s41436-018-0300-5</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>
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  <descriptions>
    <description descriptionType="Abstract">Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.</description>
  </descriptions>
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