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中国医学科学院 北... [12]
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期刊论文 [12]
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2019 [2]
2018 [1]
2017 [4]
2016 [2]
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专题:中国医学科学院 北京协和医学院
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Novel alanyl-tRNA synthetase 2 (AARS2) homozygous mutation in a consanguineous Chinese family with premature ovarian insufficiency
期刊论文
2019, 卷号: 112, 期号: 3, 页码: 569-+
作者:
Zhou, Yiran
;
Chen, Beili
;
Li, Lin
;
Pan, Hong
;
Liu, Beihong
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2020/01/03
Primary ovarian insufficiency
whole exome sequencing
alanyl-tRNA synthetase
AARS2
CAPS Mutations Are Potentially Associated with Unexplained Recurrent Pregnancy Loss
期刊论文
2019, 卷号: 189, 期号: 1, 页码: 124-131
作者:
Pan, Hong
;
Xiang, Huifen
;
Wang, Jing
;
Wei, Zhaolian
;
Zhou, Yiran
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2020/01/03
A novel homozygous mutation of bone morphogenetic protein 15 identified in a consanguineous marriage family with primary ovarian insufficiency
期刊论文
2018, 卷号: 36, 期号: 2, 页码: 206-209
作者:
Zhang, Wei
;
Wang, Jing
;
Wang, Xi
;
Li, Lin
;
Pan, Hong
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2020/01/03
BMP15
Infertility
Primary ovarian insufficiency
Whole-exome sequencing
Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing
期刊论文
2017, 卷号: 32, 期号: 10, 页码: 2138-2146
作者:
Wang, Binbin
;
Li, Lin
;
Zhu, Ying
;
Zhang, Wei
;
Wang, Xi
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2020/01/03
primary ovarian insufficiency
premature ovarian failure
KHDRBS1
SAM68
alternative splicing
whole-exome sequencing
RNA-sequencing
pedigree
A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency
期刊论文
2017, 卷号: 32, 期号: 1, 页码: 248-255
作者:
Li, Lin
;
Wang, Binbin
;
Zhang, Wei
;
Chen, Beili
;
Luo, Minna
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2020/01/04
primary ovarian insufficiency
NOBOX
homozygous truncating variant
GDF9
G2
M arrest
Genetic association between PAX2 and mullerian duct anomalies in Han Chinese females
期刊论文
2017, 卷号: 34, 期号: 1, 页码: 125-129
作者:
Xu, Zuying
;
Wu, Shinan
;
Xing, Qiong
;
Wang, Xi
;
Xiang, Huifen
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2020/01/04
PAX2
Mullerian duct anomalies
Single nucleotide polymorphism
Association study
Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina
期刊论文
2017, 卷号: 8, 期号: 5, 页码: 8785-8790
作者:
Zhang, Wei
;
Zhou, Xueya
;
Liu, Liyang
;
Zhu, Ying
;
Liu, Chunmei
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2020/01/04
LHX1
congenital absence of the uterus and vagina
Mullerian duct abnormality
whole exome sequencing
transcriptional activity
A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Mullerian hormone signaling pathway
期刊论文
2016, 卷号: 22, 期号: 9, 页码: 669-678
作者:
Li, Lin
;
Zhou, Xueya
;
Wang, Xi
;
Wang, Jing
;
Zhang, Wei
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/04
primary ovarian insufficiency
anti-Mullerian hormone (AMH)
AMHR2
dominant negative mutation
signaling pathway
granulosa cell
transforming growth factor-beta (TGF-beta)
premature ovarian failure
ovarian follicle development
HOXA10, EMX2 and TENM1 expression in the mid-secretory endometrium of infertile women with a Mullerian duct anomaly
期刊论文
2016, 卷号: 32, 期号: 4, 页码: 388-393
作者:
Zhu, Ying
;
Luo, Minna
;
Huang, Hailiang
;
Du, Xue
;
Chen, Dawei
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2020/01/04
EMX2
HOXA10
infertility
Mullerian duct anomaly
partially septate uterus
TENM1
No association between polymorphisms in PTEN and primary ovarian insufficiency in a Han Chinese population
期刊论文
2015, 卷号: 13
作者:
Zou, Weiwei
;
Wang, Binbin
;
Wang, Jing
;
Zhang, Zhiguo
;
Xu, Xiaofeng
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/13
Primary ovarian insufficiency
PTEN
Polymorphisms
Chinese Han population
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