1 Ocak 2020 Dergi makalesi Açık Erişim

Oktay, Y.; Gungor, S.; Hiz, S.; Yaramis, A.; Aranguren-Ibanez, A.; Yis, U.; Sonmezler, E.; Yilmaz, E.; Ekinci, B.; Aslan, M.; Balaraju, S.; Szabo, N.; Laurie, S.; Beltran, S.; Hathazi, D.; MacArthur, D.; Roos, A.; Lochmuller, H.; Vernos, I.; Horvath, R.

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      <creatorName>Gungor, S.</creatorName>
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      <affiliation>Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkey</affiliation>
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      <creatorName>Yis, U.</creatorName>
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      <creatorName>Sonmezler, E.</creatorName>
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      <creatorName>Yilmaz, E.</creatorName>
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      <creatorName>Ekinci, B.</creatorName>
      <givenName>B.</givenName>
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      <affiliation>Dokuz Eylul Univ, Izmir Int Biomed &amp; Genome Inst, IBG izmir, Izmir, Turkey</affiliation>
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      <creatorName>Aslan, M.</creatorName>
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      <affiliation>Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkey</affiliation>
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      <creatorName>Balaraju, S.</creatorName>
      <givenName>S.</givenName>
      <familyName>Balaraju</familyName>
      <affiliation>Newcastle Univ, Inst Translat &amp; Clin Res, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne &amp; Wear, England</affiliation>
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      <creatorName>Szabo, N.</creatorName>
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      <affiliation>Univ Cambridge, Sch Clin Med, John Geest Cambridge Ctr Brain Repair, Dept Clin Neurosci, Cambridge, England</affiliation>
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      <creatorName>Laurie, S.</creatorName>
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      <creatorName>Hathazi, D.</creatorName>
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      <affiliation>Univ Cambridge, Sch Clin Med, John Geest Cambridge Ctr Brain Repair, Dept Clin Neurosci, Cambridge, England</affiliation>
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      <creatorName>MacArthur, D.</creatorName>
      <givenName>D.</givenName>
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      <affiliation>Massachusetts Gen Hosp, Analyt &amp; Translat Genet Unit, Boston, MA 02114 USA</affiliation>
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      <creatorName>Roos, A.</creatorName>
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      <creatorName>Lochmuller, H.</creatorName>
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      <creatorName>Vernos, I.</creatorName>
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      <affiliation>Barcelona Inst Sci &amp; Technol, Ctr Genom Regulat CRG, Barcelona, Spain</affiliation>
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      <creatorName>Horvath, R.</creatorName>
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      <affiliation>Univ Cambridge, Sch Clin Med, John Geest Cambridge Ctr Brain Repair, Dept Clin Neurosci, Cambridge, England</affiliation>
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  <titles>
    <title>A Homozygous Missense Variant Intubgcp2Alter The G-Tubulin Ring Complex Leading To Abnormal Cortical Development, Pontocerebellar Atrophy And Altered Myelination</title>
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  <publisher>Aperta</publisher>
  <publicationYear>2020</publicationYear>
  <dates>
    <date dateType="Issued">2020-01-01</date>
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  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
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    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsVersionOf">10.81043/aperta.4382</relatedIdentifier>
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    <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">Öz bulunamadı.</description>
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