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Opsismodysplasia Resulting From an Insertion Mutation in the SH2 Domain, Which Destabilizes INPPL1

dc.contributor.authorKayserili, Huelya
dc.contributor.authorNickerson, Deborah A.
dc.contributor.authorKRAKOW, Deborah
dc.contributor.authorBamshad, Michael J.
dc.contributor.authorYilmaz, Alev
dc.contributor.authorCHANG, Yong
dc.contributor.authorLACHMAN, Ralph S.
dc.contributor.authorCOHN, Daniel H.
dc.contributor.authorLI, Bing
dc.date.accessioned2021-03-04T09:24:58Z
dc.date.available2021-03-04T09:24:58Z
dc.date.issued2014
dc.identifier.citationLI B., KRAKOW D., Nickerson D. A. , Bamshad M. J. , CHANG Y., LACHMAN R. S. , Yilmaz A., Kayserili H., COHN D. H. , "Opsismodysplasia Resulting From an Insertion Mutation in the SH2 Domain, Which Destabilizes INPPL1", AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.164, sa.9, ss.2407-2411, 2014
dc.identifier.issn1552-4825
dc.identifier.othervv_1032021
dc.identifier.otherav_6822201f-54d4-4565-a648-e0cf52488608
dc.identifier.urihttp://hdl.handle.net/20.500.12627/72228
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.36640
dc.language.isoeng
dc.subjectTıbbi Genetik
dc.subjectTemel Bilimler
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri
dc.subjectTıp
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.titleOpsismodysplasia Resulting From an Insertion Mutation in the SH2 Domain, Which Destabilizes INPPL1
dc.typeMakale
dc.relation.journalAMERICAN JOURNAL OF MEDICAL GENETICS PART A
dc.contributor.departmentDavid Geffen School of Medicine at UCLA , ,
dc.identifier.volume164
dc.identifier.issue9
dc.identifier.startpage2407
dc.identifier.endpage2411
dc.contributor.firstauthorID91313


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