dc.contributor.author | Işık, Fatma Büşra | |
dc.contributor.author | Sözügüzel, Mavi Deniz | |
dc.contributor.author | Kılıçoğlu Aydın, Birsen | |
dc.contributor.author | Parlayan, Cüneyd | |
dc.contributor.author | Yıldız, Mete | |
dc.contributor.author | Cangül, Hakan | |
dc.date.accessioned | 2019-12-25T09:11:33Z | |
dc.date.available | 2019-12-25T09:11:33Z | |
dc.date.issued | 2019 | en_US |
dc.identifier.citation | Işık, F. B., Sözügüzel, M. D., Kılıçoğlu Aydın, B., Parlayan, C., Yıldız, M. ve Cangül, H. (2019). A novel homozygous nonsense mutation (p.R516X) in the SLC5A5 gene causing congenital hypothyroidism. 52nd Conference of the European-Society-of-Human-Genetics (ESHG) içinde (1248-1249. ss.). Gothenburg, Sweden, June 15-18, 2019. | en_US |
dc.identifier.issn | 1476-5438 | |
dc.identifier.issn | 1018-4813 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12511/4675 | |
dc.description | Conference
Conference: 52nd Conference of the European-Society-of-Human-Genetics (ESHG)
Location: Gothenburg, SWEDEN
Date: JUN 15-18, 2019 | en_US |
dc.description.abstract | ... | en_US |
dc.description.sponsorship | European Society of Human Genetics | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Nature Publishing Group | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | SLC5A5 Gene | en_US |
dc.subject | Congenital Hypothyroidism | en_US |
dc.subject | Mutation | en_US |
dc.subject | p.R516X | en_US |
dc.title | A novel homozygous nonsense mutation (p.R516X) in the SLC5A5 gene causing congenital hypothyroidism | en_US |
dc.type | conferenceObject | en_US |
dc.relation.ispartof | 52nd Conference of the European-Society-of-Human-Genetics (ESHG) | en_US |
dc.department | İstanbul Medipol Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Biyomedikal Mühendisliği Bölümü | en_US |
dc.authorid | 0000-0002-6183-9489 | en_US |
dc.identifier.volume | 27 | en_US |
dc.identifier.issue | Supplement: 2 | en_US |
dc.identifier.startpage | 1248 | en_US |
dc.identifier.endpage | 1249 | en_US |
dc.relation.publicationcategory | Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı | en_US |
dc.identifier.wosquality | Q2 | en_US |