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CNKI学位论文(5)
知网期刊论文(11)
在“
Elsevier电子期刊
”中,
命中:
11
条,耗时:小于0.01 秒
在所有数据库中总计命中:
16
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 Huang
1
;
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.
A novel mutation in the COL2A1 gene in a Chinese family with
Spondyloepiphyseal
dysplasia
congenita
作者:
Shiyin Li
;
Hao Zhou
;
Haitao Qin
;
Hong Guo
;
Yun Bai
关键词:
Spondyloepiphyseal
dysplasia
congenita
(SEDC)
;
COL2A1
;
Mutation
;
Family
刊名:Joint Bone Spine
出版年:January, 2014
3.
Neurosurgical Interventions for
Spondyloepiphyseal
Dysplasia
Congenita
: Clinical Presentation and Assessment of the Literature
作者:
An
;
Veeravagu
;
Shivan
;
P. Lad
;
Joaquin Q. Camara-Quintana
;
Bowen Jiang
;
Lawrence Shuer
关键词:
Cervical stenosis
;
Spondyloepiphyseal
dysplasia
;
Spondyloepiphyseal
dysplasia
congenita
l
;
Thoracic spine
刊名:World Neurosurgery
出版年:2013
4.
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with
spondyloepiphyseal
dysplasia
congenita
作者:
Zeng Zhang
b
;
Jin-Wei He
a
;
Wen-Zhen Fu
a
;
Chang-Qing Zhang
b
;
Zhen-Lin Zhang
a
;
;
zzl2002@medmail.com.cn
关键词:
Spondyloepiphyseal
dysplasia
congenita
;
COL2A1
;
Mutation
刊名:Biochemical and Biophysical Research Communications
出版年:2011
5.
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with
spondyloepiphyseal
dysplasia
congenita
作者:
Zeng Zhang
b
;
Jin-Wei He
a
;
Wen-Zhen Fu
a
;
Chang-Qing Zhang
b
;
Zhen-Lin Zhang
a
;
;
zzl2002@medmail.com.cn
关键词:
Spondyloepiphyseal
dysplasia
congenita
;
COL2A1
;
Mutation
刊名:Biochemical and Biophysical Research Communications
出版年:2011
6.
Osteoarthritis-like changes in the heterozygous sedc mouse associated with the HtrA1-Ddr2-Mmp-13 degradative pathway: a new model of osteoarthritis
作者:
D.W. Holt
&dagger
;
;
M.L. Henderson
&dagger
;
;
C.E. Stockdale
&dagger
;
;
J.T. Farrell
&dagger
;
;
D.L. Kooyman
&dagger
;
;
L.C. Bridgewater
&Dagger
;
;
R.E. Seegmiller
&dagger
;
;
§
;
;
robert_seegmiller@byu.edu
关键词:
Spondyloepiphyseal
dysplasia
congenita
;
Cartilage degradation
;
HtrA1
;
Ddr2
;
Mmp-13
;
Osteoarthritis
;
Type II collagen mutation
刊名:Osteoarthritis and Cartilage
出版年:2012
7.
Modified lightwand intubation in a child with
spondyloepiphyseal
dysplasia
congenita
作者:
Chih-Peng Lin
a
;
Chang-Fu Su
a
;
Wen-Ying Lin
a
;
Jing-Yi Jan
a
;
Chuen-Shin Jeng
a
;
Feng-Sheng Lin
a
;
Shou-Zen Fan
;
a
;
shouzen@gmail.com"" rel=""nofollow
关键词:
cervical vertebrae
;
intratracheal
;
intubation
刊名:Acta Anaesthesiologica Taiwanica
出版年:2011
8.
Molecular prenatal diagnosis in 2 pregnancies at risk for
spondyloepiphyseal
dysplasia
congenita
作者:
Xin-Yi Xia
;
Ying-Xia Cui
;
Yu-Feng Huang
;
Lian-Jun Pan
;
Yao Feng
;
Bin Yang
;
Xiao-Jun Li
;
Pei-Yuan Zhu
;
Yi-Chao Shi
;
Quan Liang
关键词:
COL2A1
gene
;
Spondyloepiphyseal
dysplasia
congenita
;
Molecular prenatal diagnosis
刊名:Clinica Chimica Acta
出版年:2008
9.
Spondyloepiphyseal
dysplasia
作者:
Rouin Amirfeyz
;
Catriona Clark
;
Martin Gargan
关键词:
Spondyloepiphyseal
dysplasia
;
SED
;
SEDC
;
SEDT
;
Clinical features
;
Treatment
刊名:Current Orthopaedics
出版年:2005
10.
Thoracolumbar kyphosing scoliosis associated with
spondyloepiphyseal
dysplasia
congenita
: a case report
作者:
Masaji Morita
;
Kei Miyamoto
;
Hirofumi Nishimoto
;
Hideo Hosoe and Katsuji Shimizu
刊名:The Spine Journal
出版年:2005
1
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