Publication:
Novel homozygous missense mutation in NARS1 gene: A new neurodevelopmental disorder with microcephaly

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dc.contributor.authorTemel, Sehime Gülsün
dc.contributor.authorSağ, Şebnem Özemri
dc.contributor.authorEren, Erdal
dc.contributor.authorDeniz, Engin
dc.contributor.buuauthorTEMEL, ŞEHİME GÜLSÜN
dc.contributor.buuauthorÖZEMRİ SAĞ, ŞEBNEM
dc.contributor.buuauthorEREN, ERDAL
dc.contributor.departmentTıp Fakültesi
dc.contributor.orcid0000-0002-9802-0880
dc.contributor.orcid0000-0002-1684-1053
dc.contributor.researcheridJPK-3909-2023
dc.contributor.researcheridAAG-8385-2021
dc.contributor.researcheridAAH-8355-2021
dc.date.accessioned2024-09-11T05:42:11Z
dc.date.available2024-09-11T05:42:11Z
dc.date.issued2022-04-01
dc.identifier.endpage352
dc.identifier.issn1018-4813
dc.identifier.issueSupplement 1
dc.identifier.startpage352
dc.identifier.urihttps://hdl.handle.net/11452/44522
dc.identifier.volume30
dc.identifier.wos000779367701391
dc.indexed.wosWOS.SCI
dc.language.isoen
dc.publisherSpringernature
dc.relation.journalEuropean Journal of Human Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectBiochemistry & molecular biology
dc.subjectGenetics & heredity
dc.titleNovel homozygous missense mutation in NARS1 gene: A new neurodevelopmental disorder with microcephaly
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi
relation.isAuthorOfPublicationf513efaa-a54e-4cfa-840f-28e2fbdc001a
relation.isAuthorOfPublicationdf8aeae7-a31e-454f-a84a-198138a42763
relation.isAuthorOfPublication2d1c6521-88a9-4270-9918-92f16f98006c
relation.isAuthorOfPublication.latestForDiscoveryf513efaa-a54e-4cfa-840f-28e2fbdc001a

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