Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/37388
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dc.contributor.authorAlbuz, B.-
dc.contributor.authorÇetin, Gökhan Ozan-
dc.contributor.authorÖzhan, Bayram-
dc.contributor.authorSarikepe, B.-
dc.contributor.authorAnlaş, Ö.-
dc.contributor.authorÖztürk, M.-
dc.contributor.authorZeybek, S.-
dc.date.accessioned2021-02-02T09:25:38Z
dc.date.available2021-02-02T09:25:38Z
dc.date.issued2020
dc.date.issued2020-
dc.identifier.issn1473-5717-
dc.identifier.urihttps://hdl.handle.net/11499/37388-
dc.identifier.urihttps://doi.org/10.1097/MCD.0000000000000295-
dc.description.abstractAbstract Not Availableen_US
dc.language.isoenen_US
dc.publisherNLM (Medline)en_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectcarbohydrate sulfotransferasesen_US
dc.subjectsulfotransferaseen_US
dc.subjectcase reporten_US
dc.subjectchilden_US
dc.subjectchondrodysplasiaen_US
dc.subjectfemaleen_US
dc.subjectgeneticsen_US
dc.subjecthumanen_US
dc.subjectpathologyen_US
dc.subjectstop codonen_US
dc.subjectturkey (bird)en_US
dc.subjectChilden_US
dc.subjectCodon, Nonsenseen_US
dc.subjectFemaleen_US
dc.subjectHumansen_US
dc.subjectOsteochondrodysplasiasen_US
dc.subjectSulfotransferasesen_US
dc.subjectTurkeyen_US
dc.titleA novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani typeen_US
dc.typeArticleen_US
dc.relation.journalClinical dysmorphology
dc.relation.journalClinical dysmorphologyen_US
dc.identifier.volume29en_US
dc.identifier.issue1
dc.identifier.issue1en_US
dc.identifier.startpage61en_US
dc.identifier.endpage64en_US
dc.authorid0000-0002-6100-7973-
dc.authorid0000-0002-3412-7355-
dc.identifier.doi10.1097/MCD.0000000000000295-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.pmid31567425en_US
dc.identifier.scopus2-s2.0-85075959566en_US
dc.identifier.wosWOS:000561343100012en_US
dc.identifier.scopusqualityQ3-
dc.ownerPamukkale University-
item.languageiso639-1en-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeArticle-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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