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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.departmentN/A
dc.contributor.departmentN/A
dc.contributor.departmentN/A
dc.contributor.kuauthorÇepni, Ece
dc.contributor.kuauthorAvcı, Şahin
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuprofilePhD Student
dc.contributor.kuprofileFaculty Member
dc.contributor.kuprofileFaculty Member
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.schoolcollegeinstituteSchool of Medicine
dc.contributor.unitKoç University Hospital
dc.contributor.yokidN/A
dc.contributor.yokidN/A
dc.contributor.yokid7945
dc.date.accessioned2024-11-09T23:22:01Z
dc.date.issued2022
dc.description.abstractN/A
dc.description.indexedbyWoS
dc.description.issueSUPPL 1
dc.description.openaccessNO
dc.description.publisherscopeInternational
dc.description.volume30
dc.identifier.doiN/A
dc.identifier.eissn1476-5438
dc.identifier.issn1018-4813
dc.identifier.urihttps://hdl.handle.net/20.500.14288/10977
dc.identifier.wos779367701353
dc.keywordsN/A
dc.languageEnglish
dc.publisherSpringernature
dc.sourceEuropean 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.authorid0000-0003-2302-3558
local.contributor.authorid0000-0001-9545-6657
local.contributor.authorid0000-0003-0376-499X
local.contributor.kuauthorÇepni, Ece
local.contributor.kuauthorAvcı, Şahin
local.contributor.kuauthorKayserili, Hülya

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