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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<familyName>Yaramis</familyName> <affiliation>Diyarbakir Mem Hosp, Pediat Neurol Clin, Diyarbakir, Turkey</affiliation> </creator> <creator> <creatorName>Aranguren-Ibanez, A.</creatorName> <givenName>A.</givenName> <familyName>Aranguren-Ibanez</familyName> <affiliation>Barcelona Inst Sci & Technol, Ctr Genom Regulat, Barcelona, Spain</affiliation> </creator> <creator> <creatorName>Yis, U.</creatorName> <givenName>U.</givenName> <familyName>Yis</familyName> <affiliation>Dokuz Eylul Univ, Dept Pediat Neurol, Fac Med, Izmir, Turkey</affiliation> </creator> <creator> <creatorName>Sonmezler, E.</creatorName> <givenName>E.</givenName> <familyName>Sonmezler</familyName> <affiliation>Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, IBG izmir, Izmir, Turkey</affiliation> </creator> <creator> <creatorName>Yilmaz, E.</creatorName> <givenName>E.</givenName> <familyName>Yilmaz</familyName> <affiliation>Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, IBG izmir, Izmir, Turkey</affiliation> </creator> <creator> <creatorName>Ekinci, B.</creatorName> <givenName>B.</givenName> <familyName>Ekinci</familyName> <affiliation>Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, IBG izmir, Izmir, Turkey</affiliation> </creator> <creator> <creatorName>Aslan, M.</creatorName> <givenName>M.</givenName> <familyName>Aslan</familyName> <affiliation>Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkey</affiliation> </creator> <creator> <creatorName>Balaraju, S.</creatorName> <givenName>S.</givenName> <familyName>Balaraju</familyName> <affiliation>Newcastle Univ, Inst Translat & Clin Res, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England</affiliation> </creator> <creator> <creatorName>Szabo, N.</creatorName> <givenName>N.</givenName> <familyName>Szabo</familyName> <affiliation>Univ Cambridge, Sch Clin Med, John Geest Cambridge Ctr Brain Repair, Dept Clin Neurosci, Cambridge, England</affiliation> </creator> <creator> <creatorName>Laurie, S.</creatorName> <givenName>S.</givenName> <familyName>Laurie</familyName> <affiliation>Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain</affiliation> </creator> <creator> <creatorName>Beltran, S.</creatorName> <givenName>S.</givenName> <familyName>Beltran</familyName> <affiliation>Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain</affiliation> </creator> <creator> <creatorName>Hathazi, D.</creatorName> <givenName>D.</givenName> <familyName>Hathazi</familyName> <affiliation>Univ Cambridge, Sch Clin Med, John Geest Cambridge Ctr Brain Repair, Dept Clin Neurosci, Cambridge, England</affiliation> </creator> <creator> <creatorName>MacArthur, D.</creatorName> <givenName>D.</givenName> <familyName>MacArthur</familyName> <affiliation>Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA</affiliation> </creator> <creator> <creatorName>Roos, A.</creatorName> <givenName>A.</givenName> <familyName>Roos</familyName> </creator> <creator> <creatorName>Lochmuller, H.</creatorName> <givenName>H.</givenName> <familyName>Lochmuller</familyName> </creator> <creator> <creatorName>Vernos, I.</creatorName> <givenName>I.</givenName> <familyName>Vernos</familyName> <affiliation>Barcelona Inst Sci & Technol, Ctr Genom Regulat CRG, Barcelona, Spain</affiliation> </creator> <creator> <creatorName>Horvath, R.</creatorName> <givenName>R.</givenName> <familyName>Horvath</familyName> <affiliation>Univ Cambridge, Sch Clin Med, John Geest Cambridge Ctr Brain Repair, Dept Clin Neurosci, Cambridge, England</affiliation> </creator> </creators> <titles> <title>A Homozygous Missense Variant Intubgcp2Alter The G-Tubulin Ring Complex Leading To Abnormal Cortical Development, Pontocerebellar Atrophy And Altered Myelination</title> </titles> <publisher>Aperta</publisher> <publicationYear>2020</publicationYear> <dates> <date dateType="Issued">2020-01-01</date> </dates> <resourceType resourceTypeGeneral="Text">Journal article</resourceType> <alternateIdentifiers> <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/4383</alternateIdentifier> </alternateIdentifiers> <relatedIdentifiers> <relatedIdentifier relatedIdentifierType="DOI" relationType="IsVersionOf">10.81043/aperta.4382</relatedIdentifier> <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.81043/aperta.4383</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">Öz bulunamadı.</description> </descriptions> </resource>
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