dc.contributor.author | Özdilli, Kürşat | |
dc.contributor.author | Bekereçioğlu, Mehmet | |
dc.contributor.author | Pehlivan, Sadice | |
dc.contributor.author | Büyükgüral, Bülent | |
dc.date.accessioned | 10.07.201910:49:13 | |
dc.date.accessioned | 2019-07-10T20:01:49Z | |
dc.date.available | 10.07.201910:49:13 | |
dc.date.available | 2019-07-10T20:01:49Z | |
dc.date.issued | 2017 | en_US |
dc.identifier.citation | Özdilli, K., Bekereçioğlu, M., Pehlivan, S. ve Büyükgüral, B. (2017). A preliminary association study in Turkish population: Do IL-17 and UCP2 Gene variants Contributes to The Ethiology of Microtia? Molecular Biology of the Cell. Philadelphia, USA, December 02-06, 2017. | en_Us |
dc.identifier.issn | 1059-1524 | |
dc.identifier.issn | 1939-4586 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12511/3454 | |
dc.description | Annual Joint Meeting of the American-Society-for-Cell-Biology and the European-Molecular-Biology-Organization (ASCB/EMBO) -- DEC 02-06, 2017 -- Philadelphia, PA | en_US |
dc.description | WOS: 000426664302068 | en_US |
dc.description.abstract | Counselling sessions with her family revealed that there were atleast four of her relatives suffering from the same symptoms. We draw a pedigree displaying three generations and consanguinity of the family and carried out a WES analysis to selected. Results revealed that, three severely affected family members had 1-bp insertion in the WNK1 gene and homozygous for the allele. This WNK1 gene was one of the candidate genes for HSAN type 2. | en_US |
dc.description.sponsorship | American Society for Cell Biology | en_US |
dc.description.sponsorship | European Molecular Biology Organization (EMBO) | en_US |
dc.language.iso | eng | en_US |
dc.publisher | American Society for Cell Biology | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Results Revealed | en_Us |
dc.subject | Pedigree Displaying | en_Us |
dc.subject | Ethiology | en_US |
dc.title | A preliminary association study in Turkish population: Do IL-17 and UCP2 gene variants contributes to the ethiology of microtia? | en_US |
dc.type | conferenceObject | en_US |
dc.relation.ispartof | Molecular Biology of the Cell | en_US |
dc.department | İstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı | en_US |
dc.authorid | 0000-0002-7129-5024 | en_US |
dc.identifier.volume | 28 | en_US |
dc.relation.publicationcategory | Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı | en_US |
dc.identifier.wosquality | Q3 | en_US |