Publication:
Dyskeratosis congenita: A case report

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dc.contributor.authorGörükmez, Özlem
dc.contributor.authorCarrillo, Jaime
dc.contributor.authorPerona, R.
dc.contributor.buuauthorSağ, Şebnem Özemri
dc.contributor.buuauthorTopak, Ali
dc.contributor.buuauthorTüre, Mehmet
dc.contributor.buuauthorŞahintürk, Serdar
dc.contributor.buuauthorGülten, Tuna
dc.contributor.buuauthorYakut, Tahsin
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentTıbbi Genetik Ana Bilim Dalı
dc.contributor.orcid0000-0002-7612-0055
dc.contributor.researcheridAAH-8355-2021
dc.contributor.researcheridHOQ-5853-2023
dc.contributor.researcheridECY-8582-2022
dc.contributor.researcheridACQ-9887-2022
dc.contributor.researcheridEYU-9227-2022
dc.contributor.researcheridGIS-1493-2022
dc.contributor.scopusid57193738647
dc.contributor.scopusid55313334700
dc.contributor.scopusid6602186133
dc.contributor.scopusid57214054591
dc.contributor.scopusid6505944216
dc.contributor.scopusid6602802424
dc.date.accessioned2023-11-23T11:24:40Z
dc.date.available2023-11-23T11:24:40Z
dc.date.issued2016
dc.identifier.citationSağ, Ş. Ö. vd. (2016). "Dyskeratosis congenita: A case report". Genetic Counseling, 27(2), 263-267.
dc.identifier.endpage267
dc.identifier.issn1015-8146
dc.identifier.issue2
dc.identifier.pubmed29485835
dc.identifier.scopus2-s2.0-85016206066
dc.identifier.startpage263
dc.identifier.urihttp://hdl.handle.net/11452/34992
dc.identifier.volume27
dc.identifier.wos000380178500018
dc.indexed.wosSCIE
dc.language.isoen
dc.publisherMedecine et Hygiene
dc.relation.collaborationYurt dışı
dc.relation.collaborationSanayi
dc.relation.journalGenetic Counseling
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectBiotechnology & applied microbiology
dc.subjectGenetics & heredity
dc.subjectMedical ethics
dc.subjectResearch & experimental medicine
dc.subjectTelomerase component
dc.subjectMutations
dc.subjectDKC1
dc.subject.emtreeCell cycle protein
dc.subject.emtreeDKC1 protein, human
dc.subject.emtreeNuclear protein
dc.subject.emtreeAdult
dc.subject.emtreeAnemia
dc.subject.emtreeBone marrow depression
dc.subject.emtreeCase report
dc.subject.emtreeDental caries
dc.subject.emtreeDyskeratosis congenita
dc.subject.emtreeEsophagus stenosis
dc.subject.emtreeEsophagus varices
dc.subject.emtreeFinger dermatoglyphics
dc.subject.emtreeGene mutation
dc.subject.emtreeHeterozygote
dc.subject.emtreeHuman
dc.subject.emtreeLetter
dc.subject.emtreeLeukoplakia
dc.subject.emtreeLive birth
dc.subject.emtreeMale
dc.subject.emtreeNail dystrophy
dc.subject.emtreePancytopenia
dc.subject.emtreePeriodontal disease
dc.subject.emtreePortal hypertension
dc.subject.emtreeSkin pigmentation
dc.subject.emtreeSplenomegaly
dc.subject.emtreeYoung adult
dc.subject.emtreeDyskeratosis congenita
dc.subject.emtreeGenetics
dc.subject.emtreePathology
dc.subject.meshAdult
dc.subject.meshCell cycle proteins
dc.subject.meshDyskeratosis congenita
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshNuclear proteins
dc.subject.meshYoung adult
dc.subject.wosBiotechnology & applied microbiology
dc.subject.wosGenetics & heredity
dc.subject.wosMedical ethics
dc.subject.wosMedicine, research & experimental
dc.titleDyskeratosis congenita: A case report
dc.typeLetter
dc.wos.quartileQ4
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Tıbbi Genetik Ana Bilim Dalı
local.indexed.atPubMed
local.indexed.atWOS

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