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Baraitser-winter syndrome in a boy with heterozygous missense mutation in the ACTB gene

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dc.contributor.authorTemel, Şehime Gülsün
dc.contributor.authorEkmekçi, G.
dc.contributor.authorYenmiş, G.
dc.contributor.authorKiper, P. O. Şimşek
dc.contributor.authorAlanay, Y.
dc.contributor.buuauthorTEMEL, ŞEHİME GÜLSÜN
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentHistoloji ve Embriyoloji Bölümü
dc.contributor.researcheridAAG-8385-2021
dc.date.accessioned2024-07-24T12:18:52Z
dc.date.available2024-07-24T12:18:52Z
dc.date.issued2018-10-01
dc.descriptionBu çalışma, 27-30, Mayıs 2017 tarihlerinde Copenhagen[Danimarka]’da düzenlenen 50. European-Society-of-Human-Genetics (ESHG) Conference Kongresi‘nde bildiri olarak sunulmuştur.
dc.description.sponsorshipEuropean Soc Human Genet
dc.identifier.eissn1476-5438
dc.identifier.endpage956
dc.identifier.issn1018-4813
dc.identifier.startpage956
dc.identifier.urihttps://hdl.handle.net/11452/43419
dc.identifier.volume26
dc.identifier.wos000489312608068
dc.indexed.wosWOS.SCI
dc.indexed.wosWOS.ISTP
dc.language.isoen
dc.publisherNature Publishing Group
dc.relation.journalEuropean Journal of Human Genetics
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectScience & technology
dc.subjectLife sciences & biomedicine
dc.subjectBiochemistry & molecular biology
dc.subjectGenetics & heredity
dc.titleBaraitser-winter syndrome in a boy with heterozygous missense mutation in the ACTB gene
dc.typeOther
dc.type.subtypeMeeting Abstract
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Histoloji ve Embriyoloji Bölümü
local.indexed.atWOS
relation.isAuthorOfPublicationf513efaa-a54e-4cfa-840f-28e2fbdc001a
relation.isAuthorOfPublication.latestForDiscoveryf513efaa-a54e-4cfa-840f-28e2fbdc001a

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