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New case of dyskeratosis congenita 4 mimicking hoyeraal-hreidarsson syndrome with novel tert gene mutation

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dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorDoctor, Avcı, Şahin
dc.contributor.kuauthorPhD Student, Çepni, Ece
dc.contributor.kuauthorFaculty Member, Kayserili, Hülya
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T23:22:01Z
dc.date.issued2022
dc.description.indexedbyWOS
dc.description.issueSUPPL 1
dc.description.openaccessNO
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume30
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.urihttps://hdl.handle.net/20.500.14288/10977
dc.identifier.wos779367701353
dc.language.isoeng
dc.publisherSpringernature
dc.relation.ispartofEuropean Journal of Human Genetics
dc.subjectBiochemistry
dc.subjectMolecular biology
dc.subjectGenetics
dc.subjectHeredity
dc.titleNew case of dyskeratosis congenita 4 mimicking hoyeraal-hreidarsson syndrome with novel tert gene mutation
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorÇepni, Ece
local.contributor.kuauthorAvcı, Şahin
local.contributor.kuauthorKayserili, Hülya
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1KUH (KOÇ UNIVERSITY HOSPITAL)
local.publication.orgunit2KUH (Koç University Hospital)
local.publication.orgunit2School of Medicine
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