Publication:
Clinical exome sequencing as a powerful tool for the diagnosis of complex phenotypes

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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.coauthorAltunoğlu, Umut
dc.contributor.coauthorBertoli-Avella, Aida
dc.contributor.coauthorRolfs, Arndt
dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorBörklü Yücel, Esra
dc.contributor.kuauthorEraslan, Serpil
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:34:08Z
dc.date.issued2018
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.issueSupplement
dc.description.openaccessNO
dc.description.peerreviewstatusN/A
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuTÜBİTAK
dc.description.studentonlypublicationNo
dc.description.studentpublicationNo
dc.description.versionN/A
dc.identifier.WoSQuartileQ1
dc.identifier.eissn1476-5438
dc.identifier.embargoN/A
dc.identifier.endpage674
dc.identifier.grantnoTUBITAK-112S398
dc.identifier.issn1018-4813
dc.identifier.startpage674
dc.identifier.urihttps://hdl.handle.net/20.500.14288/12286
dc.identifier.wos000489312606088
dc.keywordsRare genetic disorders
dc.keywordsPhenotypes
dc.keywordsDiagnosis
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 exome sequencing as a powerful tool for the diagnosis of complex phenotypes
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorBörklü Yücel, Esra
local.contributor.kuauthorEraslan, Serpil
local.contributor.kuauthorKayserili, Hülya
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