Yayın: A balanced translocation t(2;7)(p21;p15) in three generations: Genome sequencing offers an opportunity to understand molecular etiology of saethre-chotzen/robinow-sarouf syndromes
| dc.contributor.author | Turkgenc, B. | |
| dc.contributor.author | Aguilar, R. P. | |
| dc.contributor.author | Curral, B. | |
| dc.contributor.author | Lowther, C. | |
| dc.contributor.author | Wilch, E. Schields | |
| dc.contributor.author | Talkowski, M. | |
| dc.contributor.author | Morton, C. | |
| dc.contributor.buuauthor | Temel, S. G. | |
| dc.contributor.buuauthor | TEMEL, ŞEHİME GÜLSÜN | |
| dc.contributor.department | Tıp Fakültesi | |
| dc.contributor.department | Genetik Ana Bilim Dalı | |
| dc.contributor.researcherid | AAG-8385-2021 | |
| dc.date.accessioned | 2024-11-26T05:11:01Z | |
| dc.date.available | 2024-11-26T05:11:01Z | |
| dc.date.issued | 2019-10-01 | |
| dc.description | Bu çalışma,Temmuz 15-18, 2019 tarihleri arasında Gothenburg[İsveç]’da düzenlenen 52. Conference of the European-Society-of-Human-Genetics (ESHG)’da bildiri olarak sunulmuştur. | |
| dc.description.sponsorship | European Soc Human Genet | |
| dc.identifier.endpage | 1271 | |
| dc.identifier.issn | 1018-4813 | |
| dc.identifier.startpage | 1271 | |
| dc.identifier.uri | https://hdl.handle.net/11452/48447 | |
| dc.identifier.volume | 27, Supplement 2 | |
| dc.identifier.wos | 000489313901189 | |
| dc.indexed.wos | WOS.SCI | |
| dc.indexed.wos | WOS.ISTP | |
| dc.language.iso | en | |
| dc.publisher | Nature Publishing Group | |
| dc.relation.journal | European Journal Of Human Genetics | |
| dc.relation.publicationcategory | Konferans Öğesi – Uluslararası | |
| dc.rights | info:eu-repo/semantics/closedAccess | |
| dc.subject | Science & technology | |
| dc.subject | Life sciences & biomedicine | |
| dc.subject | Biochemistry & molecular biology | |
| dc.subject | Genetics & heredity | |
| dc.title | A balanced translocation t(2;7)(p21;p15) in three generations: Genome sequencing offers an opportunity to understand molecular etiology of saethre-chotzen/robinow-sarouf syndromes | |
| dc.type | Other | |
| dc.type.subtype | Meeting Abstract | |
| dspace.entity.type | Publication | |
| local.contributor.department | Tıp Fakültesi/Genetik Ana Bilim Dalı | |
| local.indexed.at | WOS | |
| relation.isAuthorOfPublication | f513efaa-a54e-4cfa-840f-28e2fbdc001a | |
| relation.isAuthorOfPublication.latestForDiscovery | f513efaa-a54e-4cfa-840f-28e2fbdc001a |
