Yayın:
Characterizing a de novo TRIO gene variant as a likely cause of autosomal dominant intellectual developmental disorder type 63 with macrocephaly

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dc.contributor.authorTekgüç, Doğa Ceren
dc.contributor.authorTuncel, Gülten
dc.contributor.authorKaranlık, Şefik
dc.contributor.authorKöreken, Nevrez
dc.contributor.authorTemel, Şehime Gülsün
dc.contributor.authorErgören, Mahmut Çerkez
dc.contributor.buuauthorTEMEL, ŞEHİME GÜLSÜN
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentGenetik Tıp Bölümü
dc.contributor.researcheridAAG-8385-2021
dc.date.accessioned2024-11-26T06:17:09Z
dc.date.available2024-11-26T06:17:09Z
dc.date.issued2022-04-01
dc.identifier.eissn1476-5438
dc.identifier.endpage255
dc.identifier.issn1018-4813
dc.identifier.issueSUPPL 1
dc.identifier.startpage255
dc.identifier.urihttps://hdl.handle.net/11452/48487
dc.identifier.volume30
dc.identifier.wos000779367701132
dc.indexed.wosWOS.SCI
dc.language.isoen
dc.publisherSpringernature
dc.relation.journalEuropean Journal of Human Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectScience & technology
dc.subjectLife sciences & biomedicine
dc.subjectBiochemistry & molecular biology
dc.subjectGenetics & heredity
dc.titleCharacterizing a de novo TRIO gene variant as a likely cause of autosomal dominant intellectual developmental disorder type 63 with macrocephaly
dc.typeOther
dc.type.subtypeMeeting Abstract
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Genetik Tıp Bölümü
local.indexed.atWOS
relation.isAuthorOfPublicationf513efaa-a54e-4cfa-840f-28e2fbdc001a
relation.isAuthorOfPublication.latestForDiscoveryf513efaa-a54e-4cfa-840f-28e2fbdc001a

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