Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome

dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridDemir, Selma/0000-0002-0964-5513
dc.authorwosidKaral, Yasemin/A-6622-2018
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorAtli, Engin
dc.contributor.authorGurkan, Hakan
dc.contributor.authorUlusal, Selma
dc.contributor.authorKaral, Yasemin
dc.contributor.authorAtli, Emine I.
dc.contributor.authorTozkir, Hilmi
dc.date.accessioned2024-06-12T11:19:19Z
dc.date.available2024-06-12T11:19:19Z
dc.date.issued2018
dc.departmentTrakya Üniversitesien_US
dc.description.abstract[Abstract Not Available]en_US
dc.identifier.doi10.1097/MCD.0000000000000204
dc.identifier.endpage3en_US
dc.identifier.issn0962-8827
dc.identifier.issn1473-5717
dc.identifier.issue1en_US
dc.identifier.pmid29176366en_US
dc.identifier.scopus2-s2.0-85038232633en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage1en_US
dc.identifier.urihttps://doi.org/10.1097/MCD.0000000000000204
dc.identifier.urihttps://hdl.handle.net/20.500.14551/25165
dc.identifier.volume27en_US
dc.identifier.wosWOS:000418131000001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.relation.ispartofClinical Dysmorphologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMental-Retardationen_US
dc.subjectDeafnessen_US
dc.titleIdentification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndromeen_US
dc.typeArticleen_US

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