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CNKI学位论文(12)

知网期刊论文(9)

在“Elsevier电子期刊”中，命中：6条，耗时：0.0839871 秒

在所有数据库中总计命中：21条

1.Molecular genetics of the COL2A1-related disorders

作者：Hao Deng ; ¹ ; ^{hdeng008@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Xiangjun Huang¹ ; Lamei Yuan

关键词：COL2A1 ; the collagen type II alpha-1 gene ; OMIM ; Online Mendelian Inheritance in Man ; ACG2/HCG ; achondrogenesis type II/hypochondrogenesis ; PLSDT ; platyspondylic skeletal dysplasia ; Torrance type ; SPD ; spondyloperipheral dysplasia ; SEDC ; spondyloepiphyseal dysplasia congenita ; SEMDSTWK ; spondyloepimetaphyseal dysplasia ; Strudwick type ; STL1 ; Stickler syndrome type I ; DRRD ; dominantly inherited rhegmatogenous retinal detachment ; ANFH ; avascular necrosis of the femoral head ; LCPD ; Legg&ndash ; Calve

刊名：Mutation Research/Reviews in Mutation Research

出版年：2016

2.Sulfate in fetal development

作者：Paul A. Dawson ; ; ; ^{paul.dawson@mmri.mater.org.au}

关键词：Sulfate ; Sulfonation ; Fetal development

刊名：Seminars in Cell and Developmental Biology

出版年：2011

3.Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: Relationship to clinical severity and indications on the role of intracellular sulfate p

作者：Rossi ; Antonio ; Kaitila ; Ilkka ; Wilcox ; William R. ; Rimoin ; David L. ; Steinmann ; Beat ; Cetta ; Giuseppe ; et. al.

关键词：achondrogenesis 1B ; atelosteogenesis type 2 ; diastrophic dysplasia ; proteoglycan ; sulfate transporter ; ACG1B ; achondrogenesis 1B ; AO2 ; atelosteogenesis type 2 ; DTD ; diastrophic dysplasia ; DTDST ; diastrophic dysplasia sulfate transporter ; GAG ; glycosaminog

刊名：Matrix Biology

出版年：1998

4.Bone dysplasias in man: molecular insights

作者：Francomano ; Clair A ; McIntosh ; Iain ; Wilkin ; Douglas J

关键词：ACG IB achondrogenesis type IB ; AO II atelosteogenesis type II ; COMP cartilage oligomeric matrix protein ; DTD diastrophic dysplasia ; DTDST diastrophic dysplasia sulfate transporter ; FGFR fibroblast growth factor receptor MED multiple epiphyseal dysplasia

刊名：Current Opinion in Genetics & Development

出版年：1996

5.Achondrogenesis type I diagnosed by transvaginal ultrasonography at 13 weeks' gestation

作者：Israel Meizner ; Yoni Barnhard

刊名：American Journal of Obstetrics and Gynecology

出版年：1995

6.TIPS IN DIAGNOSING FETAL SKELETAL ANOMALIES

作者：Orion A. Rust ; MD^a ; Kenneth G. Perry Jr. ; MD^b ; William E. Roberts ; MD^b

刊名：Obstetrics and Gynecology Clinics of North America

出版年：1998

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