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dc.contributor.authorKaraman, Birsen
dc.contributor.authorAvci, Sahin
dc.contributor.authorBasaran, Seher
dc.contributor.authorToksoy, Guven
dc.contributor.authorAltunoglu, Umut
dc.contributor.authorKayserili, Hulya
dc.contributor.authorUyguner, Z. Oya
dc.contributor.authorBagirova, Gulendam
dc.date.accessioned2021-03-04T17:19:30Z
dc.date.available2021-03-04T17:19:30Z
dc.date.issued2018
dc.identifier.citationAvci S., Toksoy G., Bagirova G., Altunoglu U., Karaman B., Basaran S., Kayserili H., Uyguner Z. O. , "CLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS", JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, cilt.81, sa.4, ss.127-138, 2018
dc.identifier.othervv_1032021
dc.identifier.otherav_85ae0d50-c077-4461-b43e-7faa81a5c82d
dc.identifier.urihttp://hdl.handle.net/20.500.12627/90889
dc.identifier.urihttps://doi.org/10.26650/iuitfd.427250
dc.description.abstractObjective: Radial ray defects (RRDs) are the most common congenital abnormality of the upper extremities, with a prevalence of 1:30,000. 70% of RRDs are syndromic or accompanied by additional malformations, whereas 30% are in isolated form. Definitive diagnosis is critical for follow-up and provides an opportunity for prenatal diagnosis. The aim of this study was to provide a guide for the differential diagnosis of patients with RRD via contributing to their molecular diagnosis by constructing a next-generation sequencing (NGS) gene-panel test.
dc.language.isoeng
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectTIP, GENEL & İÇECEK
dc.titleCLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS
dc.typeMakale
dc.relation.journalJOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
dc.contributor.departmentAfyon Kocatepe Üniversitesi , ,
dc.identifier.volume81
dc.identifier.issue4
dc.identifier.startpage127
dc.identifier.endpage138
dc.contributor.firstauthorID249036


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