Publication:
Kaufman oculocerebrofacial syndrome revisited in view of a new case and novel UBE3B variant

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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.kuauthorBörklü Yücel, Esra
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuauthorSaraçoğlu, Hilal Pırıl
dc.contributor.kuauthorSarıbaş, Burak
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.endpage241
dc.identifier.issn1018-4813
dc.identifier.linkhttps://www.nature.com/articles/s41431-023-01339-3
dc.identifier.startpage241
dc.identifier.urihttps://doi.org/10.1038/s41431-023-01339-3
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22325
dc.identifier.volume31
dc.identifier.wos001050507000619
dc.keywordsGenetics and heredity
dc.keywordsKaufman oculocerebrofacial syndrome
dc.keywordsUBE3B
dc.keywordsExome sequencing
dc.language.isoeng
dc.publisherSpringernature
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.subjectBiochemistry and molecular biology
dc.titleKaufman oculocerebrofacial syndrome revisited in view of a new case and novel UBE3B variant
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorSaraçoğlu, Hilal Pırıl
local.contributor.kuauthorSarıbaş, Burak
local.contributor.kuauthorBörklü Yücel, Esra
local.contributor.kuauthorKayserili, Hülya
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