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

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dc.conference.dateAugust 28-31, 2021
dc.conference.locationVirtual Conference
dc.conference.organizer54th European Society of Human Genetics (ESHG) Conference
dc.contributor.departmentKUH (Koç University Hospital)
dc.contributor.departmentSchool of Medicine
dc.contributor.departmentGraduate School of Health Sciences
dc.contributor.facultymemberYes
dc.contributor.kuauthorAvcı, Şahin
dc.contributor.kuauthorÇepni, Ece
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteKUH (KOÇ UNIVERSITY HOSPITAL)
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF HEALTH SCIENCES
dc.date.accessioned2024-11-09T23:22:01Z
dc.date.issued2022
dc.description.fulltextNo
dc.description.harvestedfromManual
dc.description.indexedbyWOS
dc.description.indexedbyPubMed
dc.description.openaccessNO
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.eissn1476-5438
dc.identifier.embargoN/A
dc.identifier.endpage338
dc.identifier.issn1018-4813
dc.identifier.issueSUPPL 1
dc.identifier.linkhttps://www.nature.com/articles/s41431-021-01026-1
dc.identifier.pubmed35393538
dc.identifier.startpage337
dc.identifier.urihttps://hdl.handle.net/20.500.14288/10977
dc.identifier.volume30
dc.identifier.wos000779367701353
dc.keywordsHoyeraal-Hreidarsson syndrome
dc.keywordsGene mutation
dc.keywordsDyskeratosis congenita(DC)
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.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
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