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

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dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentGraduate School of Health Sciences
dc.contributor.departmentSchool of Medicine
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.indexedbyWOS
dc.description.issueSupplement 1
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume31
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.quartileQ2
dc.identifier.urihttps://hdl.handle.net/20.500.14288/22325
dc.identifier.wos1050507000619
dc.keywordsBiochemistry and molecular biology
dc.keywordsGenetics and heredity
dc.language.isoeng
dc.publisherSpringernature
dc.relation.ispartofEuropean Journal of Human Genetics
dc.subjectMedicine
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
local.publication.orgunit1GRADUATE SCHOOL OF HEALTH SCIENCES
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1KUH (KOÇ UNIVERSITY HOSPITAL)
local.publication.orgunit2KUH (Koç University Hospital)
local.publication.orgunit2School of Medicine
local.publication.orgunit2Graduate School of Health Sciences
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