Publication:
Revisiting TOP2B-related phenotypes: Turkish family with three affecteds in two generations

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dc.conference.dateJUN 11-14, 2022
dc.conference.locationVienna, AUSTRIA
dc.conference.organizer55th European-Society-of-Human-Genetics (ESHG) Conference
dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentGraduate School of Health Sciences
dc.contributor.departmentSchool of Medicine
dc.contributor.facultymemberYes
dc.contributor.kuauthorAvcı, Şahin
dc.contributor.kuauthorBörklü Yücel, Esra
dc.contributor.kuauthorÇepni, Ece
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuauthorSatkın, Nihan Bilge
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF HEALTH SCIENCES
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-12-29T09:37:19Z
dc.date.issued2023
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.openaccessN/A
dc.description.peerreviewstatusN/A
dc.description.publisherscopeInternational
dc.description.readpublishN/A
dc.description.sponsoredbyTubitakEuN/A
dc.description.studentonlypublicationNo
dc.description.studentpublicationYes
dc.description.versionN/A
dc.identifier.WoSQuartileQ1
dc.identifier.doi10.1038/s41431-023-01339-3
dc.identifier.eissn1476-5438
dc.identifier.embargoN/A
dc.identifier.endpage245
dc.identifier.issn1018-4813
dc.identifier.issueSupplement 1
dc.identifier.linkhttps://www.nature.com/articles/s41431-023-01339-3
dc.identifier.startpage244
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22327
dc.identifier.urihttps://doi.org/10.1038/s41431-023-01339-3
dc.identifier.volume31
dc.identifier.wos001050507000630
dc.keywordsBiochemistry and molecular biology
dc.keywordsGenetics and heredity
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.subjectMedicine
dc.titleRevisiting TOP2B-related phenotypes: Turkish family with three affecteds in two generations
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorÇepni, Ece
local.contributor.kuauthorBörklü Yücel, Esra
local.contributor.kuauthorAvcı, Şahin
local.contributor.kuauthorSatkın, Nihan Bilge
local.contributor.kuauthorKayserili, Hülya
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