Publication:
Clinical and molecular findings of seven Turkish nonphotosensitive trichothiodystrophy patients with two novel mutations in MPLKIP

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dc.conference.dateMAY 27-30, 2017
dc.conference.locationCopenhagen, Denmark
dc.conference.organizer50th European-Society-of-Human-Genetics (ESHG) Conference
dc.contributor.coauthorKalayci, T.
dc.contributor.coauthorAltunoglu, U.
dc.contributor.coauthorKaraman, B.
dc.contributor.coauthorUyguner, Z.
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-10T00:10:27Z
dc.date.issued2018
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.openaccessNO
dc.description.peerreviewstatusN/A
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.studentonlypublicationNo
dc.description.studentpublicationNo
dc.description.versionN/A
dc.identifier.WoSQuartileQ1
dc.identifier.eissn1476-5438
dc.identifier.embargoN/A
dc.identifier.endpage506
dc.identifier.issn1018-4813
dc.identifier.issueSupplement
dc.identifier.startpage506
dc.identifier.urihttps://hdl.handle.net/20.500.14288/17304
dc.identifier.volume26
dc.identifier.wos000489312604168
dc.keywordsNon-photosensitive trichothiodystrophy
dc.keywordsMPLKIP
dc.keywordsNovel mutations
dc.language.isoeng
dc.publisherSpringer Nature
dc.relation.affiliationKoç University
dc.relation.collectionKoç University Institutional Repository
dc.relation.ispartofEuropean Journal of Human Genetics
dc.relation.openaccessN/A
dc.rightsN/A
dc.subjectBiochemistry
dc.subjectMolecular biology
dc.subjectGenetics
dc.subjectHeredity
dc.titleClinical and molecular findings of seven Turkish nonphotosensitive trichothiodystrophy patients with two novel mutations in MPLKIP
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorKayserili, Hülya
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relation.isOrgUnitOfPublication.latestForDiscoveryd02929e1-2a70-44f0-ae17-7819f587bedd
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relation.isParentOrgUnitOfPublication.latestForDiscovery17f2dc8e-6e54-4fa8-b5e0-d6415123a93e

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