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CNKI会议论文(2)
CNKI学位论文(28)
知网期刊论文(517)
在“
SpringerLink电子期刊
”中,
命中:
3
条,耗时:小于0.01 秒
在所有数据库中总计命中:
547
条
1.
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
作者:
Wen’an Xu
;
Qiuyue Chen
;
Cuixian
Liu
;
Jiajing Chen
;
Fu Xiong…
关键词:
Craniofacial anomalies
;
Oral systemic disease(s)
;
RUNX2
;
Molecular genetics
;
Haploinsufficiency
;
Truncation protein
刊名:BMC Medical Genetics
出版年:2017
2.
BIG1, a Brefeldin A-Inhibited Guanine Nucleotide-Exchange Factor, Is Required for GABA-Gated Cl-/sup> Influx Through Regulation of GABAA Receptor Trafficking
作者:
Cuixian
Li (1)
Shaorui Chen (1)
Yang Yu (1)
Chun Zhou (1)
Ying Wang (1)
Kang Le (1)
Dong Li (1)
Weiwei Shao (1)
Liang Lu (1)
Yan You (1)
Jin Peng (1)
Heqing Huang (1)
Peiqing
Liu
(1)
Xiaoyan Shen (1) (2)
关键词:
GABAA receptors
;
BIG1
;
Trafficking
;
Chloride ions influx
;
GEF activity
刊名:Molecular Neurobiology
出版年:2014
3.
Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family
作者:
Zhisong Ji (18)
Quanxi Su (19)
Lingling Hu (18)
Qi Yang (18)
Cuixian
Liu
(18)
Jun Xiong (18)
Fu Xiong (18)
18. Deparment of Medical Genetics
;
School of Basic Medicine Sciences
;
Southern Medical University
;
Guangzhou
;
China
19. Department of Neurology
;
Yunfu People鈥檚 Hospital
;
Yunfu
;
China
关键词:
Sanger sequencing
;
Novel mutation
;
c.186
;
187delGC
;
Protein function
;
PKD
;
PRRT2
刊名:BMC Neurology
出版年:2014
1
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