| dc.contributor.author | Çelebi, Betül Gerik | |
| dc.contributor.author | Aydın, Hilal | |
| dc.date.accessioned | 2023-10-02T10:44:39Z | |
| dc.date.available | 2023-10-02T10:44:39Z | |
| dc.date.issued | 2022 | en_US |
| dc.identifier.issn | 1018-4813 / 1476-5438 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12462/13452 | |
| dc.description.abstract | Özet bilgisi yok. | en_US |
| dc.language.iso | eng | en_US |
| dc.publisher | Springernature | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.subject | Biochemistry & Molecular Biology | en_US |
| dc.subject | Genetics & Heredity | en_US |
| dc.title | Three novel heterozygous variants in the MACF1, POLA1 and TOP3B genes: A new phenotype associated with the TOP3B gene? | en_US |
| dc.type | other | en_US |
| dc.relation.journal | Europen Journal of Human Genetics | en_US |
| dc.contributor.department | Tıp Fakültesi | en_US |
| dc.contributor.authorID | 0000-0002-2448-1270 | en_US |
| dc.identifier.volume | 30 | en_US |
| dc.identifier.issue | 300 Supplement1 | en_US |
| dc.relation.publicationcategory | Diğer | en_US |
