Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome
dc.authorid | Gürkan, Hakan/0000-0002-8967-6124 | |
dc.authorid | atli, emine ikbal/0000-0001-9003-1449 | |
dc.authorid | Demir, Selma/0000-0002-0964-5513 | |
dc.authorwosid | Karal, Yasemin/A-6622-2018 | |
dc.authorwosid | ATLI, Engin/AAY-4641-2021 | |
dc.authorwosid | Gürkan, Hakan/AAF-2866-2020 | |
dc.authorwosid | atli, emine ikbal/AAN-5060-2020 | |
dc.authorwosid | Demir, Selma/A-1500-2018 | |
dc.contributor.author | Atli, Engin | |
dc.contributor.author | Gurkan, Hakan | |
dc.contributor.author | Ulusal, Selma | |
dc.contributor.author | Karal, Yasemin | |
dc.contributor.author | Atli, Emine I. | |
dc.contributor.author | Tozkir, Hilmi | |
dc.date.accessioned | 2024-06-12T11:19:19Z | |
dc.date.available | 2024-06-12T11:19:19Z | |
dc.date.issued | 2018 | |
dc.department | Trakya Üniversitesi | en_US |
dc.description.abstract | [Abstract Not Available] | en_US |
dc.identifier.doi | 10.1097/MCD.0000000000000204 | |
dc.identifier.endpage | 3 | en_US |
dc.identifier.issn | 0962-8827 | |
dc.identifier.issn | 1473-5717 | |
dc.identifier.issue | 1 | en_US |
dc.identifier.pmid | 29176366 | en_US |
dc.identifier.scopus | 2-s2.0-85038232633 | en_US |
dc.identifier.scopusquality | Q3 | en_US |
dc.identifier.startpage | 1 | en_US |
dc.identifier.uri | https://doi.org/10.1097/MCD.0000000000000204 | |
dc.identifier.uri | https://hdl.handle.net/20.500.14551/25165 | |
dc.identifier.volume | 27 | en_US |
dc.identifier.wos | WOS:000418131000001 | en_US |
dc.identifier.wosquality | Q4 | en_US |
dc.indekslendigikaynak | Web of Science | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.indekslendigikaynak | PubMed | en_US |
dc.language.iso | en | en_US |
dc.publisher | Lippincott Williams & Wilkins | en_US |
dc.relation.ispartof | Clinical Dysmorphology | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Mental-Retardation | en_US |
dc.subject | Deafness | en_US |
dc.title | Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome | en_US |
dc.type | Article | en_US |