Yayın:
Ischiospinal Dysostosis in a boy with a novel homozygous missense mutation in the BMPER gene

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dc.contributor.authorMat, B.
dc.contributor.authorAlanay, Y.
dc.contributor.buuauthorTemel, S. G.
dc.contributor.buuauthorKABLAN, AHMET
dc.contributor.buuauthorTEMEL, ŞEHİME GÜLSÜN
dc.contributor.buuauthorKablan, A.
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentGenetik Ana Bilim Dalı
dc.contributor.orcid0000-0003-1503-293X
dc.contributor.orcid0000-0002-9802-0880
dc.contributor.researcheridAAG-8385-2021
dc.date.accessioned2024-09-10T06:12:13Z
dc.date.available2024-09-10T06:12:13Z
dc.date.issued2019-07-01
dc.descriptionBu çalışma, 16-19 Haziran 2018 tarihleri arasında Milan[İtalya]’da düzenlenen 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)’da bildiri olarak sunulmuştur.
dc.description.abstract
dc.description.sponsorshipEuropean Soc Human Genet
dc.identifier.endpage917
dc.identifier.issn1018-4813
dc.identifier.issueSupplement 1
dc.identifier.startpage916
dc.identifier.urihttps://hdl.handle.net/11452/44447
dc.identifier.volume27
dc.identifier.wos000489313107102
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.titleIschiospinal Dysostosis in a boy with a novel homozygous missense mutation in the BMPER gene
dc.typeOther
dc.type.subtypeMeeting Abstract
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Genetik Ana Bilim Dalı
local.indexed.atWOS
relation.isAuthorOfPublicationf513efaa-a54e-4cfa-840f-28e2fbdc001a
relation.isAuthorOfPublication7889a973-4dca-4a60-8fd7-8594fe625870
relation.isAuthorOfPublication.latestForDiscoveryf513efaa-a54e-4cfa-840f-28e2fbdc001a

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