Publication: Novel homozygous missense mutation in NARS1 gene: A new neurodevelopmental disorder with microcephaly
dc.contributor.author | Temel, Sehime Gülsün | |
dc.contributor.author | Sağ, Şebnem Özemri | |
dc.contributor.author | Eren, Erdal | |
dc.contributor.author | Deniz, Engin | |
dc.contributor.buuauthor | TEMEL, ŞEHİME GÜLSÜN | |
dc.contributor.buuauthor | ÖZEMRİ SAĞ, ŞEBNEM | |
dc.contributor.buuauthor | EREN, ERDAL | |
dc.contributor.department | Bursa Uludağ Üniversitesi/Tıp Fakültesi. | |
dc.contributor.orcid | 0000-0002-9802-0880 | |
dc.contributor.orcid | 0000-0002-1684-1053 | |
dc.contributor.researcherid | JPK-3909-2023 | |
dc.contributor.researcherid | AAG-8385-2021 | |
dc.contributor.researcherid | AAH-8355-2021 | |
dc.date.accessioned | 2024-09-11T05:42:11Z | |
dc.date.available | 2024-09-11T05:42:11Z | |
dc.date.issued | 2022-04-01 | |
dc.identifier.endpage | 352 | |
dc.identifier.issn | 1018-4813 | |
dc.identifier.issue | Supplement 1 | |
dc.identifier.startpage | 352 | |
dc.identifier.uri | https://hdl.handle.net/11452/44522 | |
dc.identifier.volume | 30 | |
dc.identifier.wos | 000779367701391 | |
dc.indexed.wos | WOS.SCI | |
dc.language.iso | en | |
dc.publisher | Springernature | |
dc.relation.journal | European Journal of Human Genetics | |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | |
dc.rights | info:eu-repo/semantics/closedAccess | |
dc.subject | Biochemistry & molecular biology | |
dc.subject | Genetics & heredity | |
dc.title | Novel homozygous missense mutation in NARS1 gene: A new neurodevelopmental disorder with microcephaly | |
dc.type | Meeting Abstract | |
dspace.entity.type | Publication | |
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