Basit öğe kaydını göster

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

dc.contributor.authorPEHLIVAN, Davut
dc.contributor.authorKaraman, Ali
dc.contributor.authorGIBBS, Richard A.
dc.contributor.authorElcioglu, Nurse
dc.contributor.authorLUPSKI, James R.
dc.contributor.authorYilmaz, Elif Ozdamar
dc.contributor.authorTuysuz, Beyhan
dc.contributor.authorKARACA, Ender
dc.contributor.authorGezdirici, Alper
dc.contributor.authorTORUN, Deniz
dc.contributor.authorBozdogan, Sevcan Tug
dc.contributor.authorIsikay, Sedat
dc.contributor.authorATILT, Mehmed M.
dc.contributor.authorGAMBIN, Tomasz
dc.contributor.authorHAREL, Tamar
dc.contributor.authorEL-HATTAB, Ayman W.
dc.contributor.authorCHARNG, Wu-Lin
dc.contributor.authorBAYRAM, Yavuz
dc.contributor.authorAKDEMIR, Zeynep Coban
dc.contributor.authorTayfun, Gulsen Akay
dc.contributor.authorAydin, Hatip
dc.contributor.authorJHANGIANI, Shalini N.
dc.contributor.authorMUZNY, Donna M.
dc.contributor.authorCELIK, Tamer
dc.contributor.authorYUREGIR, Ozge Ozaip
dc.contributor.authorYILDIRIM, Timur
dc.contributor.authorBAYHAN, Ilhan A.
dc.contributor.authorBOERWINKLE, Eric
dc.date.accessioned2021-03-05T19:15:43Z
dc.date.available2021-03-05T19:15:43Z
dc.date.issued2016
dc.identifier.citationBAYRAM Y., KARACA E., AKDEMIR Z. C. , Yilmaz E. O. , Tayfun G. A. , Aydin H., TORUN D., Bozdogan S. T. , Gezdirici A., Isikay S., et al., "Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin", JOURNAL OF CLINICAL INVESTIGATION, cilt.126, ss.762-778, 2016
dc.identifier.issn0021-9738
dc.identifier.othervv_1032021
dc.identifier.otherav_ce6fb162-55f5-4a01-a3dd-f875408e538a
dc.identifier.urihttp://hdl.handle.net/20.500.12627/136556
dc.identifier.urihttps://doi.org/10.1172/jci84457
dc.description.abstractBACKGROUND. Arthrogryposis, defined as congenital, joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described that present with arthrogryposis, and variants of more than 220 genes have been associated with these disorders; however, the underlying molecular etiology remains unknown in the considerable majority of these cases.
dc.language.isoeng
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.titleMolecular etiology of arthrogryposis in multiple families of mostly Turkish origin
dc.typeMakale
dc.relation.journalJOURNAL OF CLINICAL INVESTIGATION
dc.contributor.departmentAnadolu Üniversitesi , ,
dc.identifier.volume126
dc.identifier.issue2
dc.identifier.startpage762
dc.identifier.endpage778
dc.contributor.firstauthorID10007


Bu öğenin dosyaları:

DosyalarBoyutBiçimGöster

Bu öğe ile ilişkili dosya yok.

Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.

Basit öğe kaydını göster