Is the Homozygous Mutation Pattern Reminding Uniparental Disomy on DHCR7 Gene Responsible for Smith-Lemli-Opitz (SLO) Syndrome
| dc.contributor.author | Kosem, Zeyneb Berrin | |
| dc.contributor.author | Sunar, Ilknur | |
| dc.contributor.author | Demircioglu, Ayse Sena | |
| dc.contributor.author | Akarsu, Rukiye | |
| dc.contributor.author | Gencay, Ismail | |
| dc.contributor.author | Akalin, Ibrahim | |
| dc.date.accessioned | 2025-09-25T10:49:43Z | |
| dc.date.available | 2025-09-25T10:49:43Z | |
| dc.date.issued | 2024 | |
| dc.identifier.issn | 1018-4813 | |
| dc.identifier.issn | 1476-5438 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12573/4086 | |
| dc.language.iso | en | en_US |
| dc.publisher | Springernature | en_US |
| dc.relation.ispartof | European Journal of Human Genetics | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.title | Is the Homozygous Mutation Pattern Reminding Uniparental Disomy on DHCR7 Gene Responsible for Smith-Lemli-Opitz (SLO) Syndrome | en_US |
| dc.type | Conference Object | en_US |
| dspace.entity.type | Publication | |
| gdc.description.department | Abdullah Gül University | en_US |
| gdc.description.departmenttemp | [Kosem, Zeyneb Berrin] Biruni Univ, Fac Engn & Nat Sci, Istanbul, Turkiye; [Sunar, Ilknur; Akalin, Ibrahim] Metagentech Ctr Genet Dis, Istanbul, Turkiye; [Demircioglu, Ayse Sena] Kocaeli Univ, Fac Med, Istanbul, Turkiye; [Akarsu, Rukiye] Abdullah Gul Univ, Fac Life & Nat Sci, Kayseri, Turkiye; [Gencay, Ismail] Uskudar Univ, Fac Engn & Nat Sci, Istanbul, Turkiye | en_US |
| gdc.description.endpage | 1119 | en_US |
| gdc.description.publicationcategory | Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı | en_US |
| gdc.description.scopusquality | Q1 | |
| gdc.description.startpage | 1119 | en_US |
| gdc.description.volume | 32 | en_US |
| gdc.description.woscitationindex | Science Citation Index Expanded - Conference Proceedings Citation Index - Science | |
| gdc.description.wosquality | Q1 | |
| gdc.identifier.wos | WOS:001407868900623 | |
| gdc.wos.citedcount | 0 | |
| relation.isOrgUnitOfPublication | 665d3039-05f8-4a25-9a3c-b9550bffecef | |
| relation.isOrgUnitOfPublication.latestForDiscovery | 665d3039-05f8-4a25-9a3c-b9550bffecef |