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中国医学科学院 北京... [6]
山东大学 [4]
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期刊论文 [18]
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浏览/检索结果:
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Molecular insights into differentiated ligand recognition of the human parathyroid hormone receptor 2
期刊论文
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2021, 卷号: 118, 期号: 32, 页码: 8
作者:
Wang, Xi
;
Cheng, Xi
;
Zhao, Lihua
;
Wang, Yuzhe
;
Ye, Chenyu
收藏
  |  
浏览/下载:24/0
  |  
提交时间:2021/11/04
parathyroid hormone receptor 2
cryo-electron microscopy
G protein-coupled receptor
ligand recognition
syndromic short stature
Development of a predictive model of growth hormone deficiency and idiopathic short stature in children
期刊论文
EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2021, 卷号: 21, 期号: 5
作者:
Cong, Mengdi
;
Qiu, Shi
;
Li, Rongpin
;
Sun, Haiyan
;
Cong, Lining
收藏
  |  
浏览/下载:84/0
  |  
提交时间:2021/04/20
growth hormone deficiency
idiopathic short stature
magnetic resonance imaging
prediction model
texture
Education, Altitude, and Humidity Can Interactively Explain Spatial Discrepancy and Predict Short Stature in 213,795 Chinese School Children
期刊论文
FRONTIERS IN PEDIATRICS, 2019, 卷号: 7, 页码: 10
作者:
Ma, Jia
;
Zhang, Zhixin
;
Niu, Wenquan
;
Chen, Jie
;
Guo, Sihui
收藏
  |  
浏览/下载:19/0
  |  
提交时间:2020/05/19
short stature
prevalence
risk factor
spatial discrepancy
prediction
Bi‐allelic recessive loss‐of‐function mutations in FIGLA cause premature ovarian insufficiency with short stature
期刊论文
Clinical Genetics, 2019, 卷号: Vol.95 No.3, 页码: 409-414
作者:
Ping Yuan
;
Zuyong He
;
Silong Sun
;
Yu Li
;
Wenjun Wang
收藏
  |  
浏览/下载:18/0
  |  
提交时间:2019/12/17
FIGLA
loss‐of‐function
mutation
premature
ovarian
insufficiency
short
stature
Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome
期刊论文
ORPHANET JOURNAL OF RARE DISEASES, 2019, 卷号: 14, 期号: 1
作者:
Zhang, Shujie
;
Chen, Shaoke
;
Qin, Haisong
;
Yuan, Haiming
;
Pi, Yalei
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/11
Floating-Harbor syndrome
SRCAP
Chinese
Short stature
Growth hormone
deficiency
Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review
期刊论文
2019
作者:
Liang Hanting
;
Miao Hui
;
Yang Hongbo
;
Gong Fengying
;
Chen Shi
收藏
  |  
浏览/下载:26/0
  |  
提交时间:2020/01/03
SPG20
Troyer syndrome
compound heterozygous mutations
hereditary spastic paraplegia
short stature
Efficacy and safety of long-acting growth hormone in children with short stature: a systematic review and meta-analysis
期刊论文
2019, 卷号: 65, 期号: 1, 页码: 25-34
作者:
Yang, Yingying
;
Bai, Xi
;
Yuan, Xianxian
;
Zhang, Yuelun
;
Chen, Shi
收藏
  |  
浏览/下载:11/0
  |  
提交时间:2020/01/03
Long-acting growth hormone
Meta-analysis
Randomized controlled trials
Short stature
Insulin-like growth factor-1
Low-density lipoprotein cholesterol levels are associated with insulin-like growth factor-1 in short-stature children and adolescents: a cross-sectional study
期刊论文
2019, 卷号: 18, 期号: 1, 页码: 120
作者:
Zhao, Qianqian
;
Jiang, Yingzhe
;
Zhang, Mei
;
Chu, Yuntian
;
Ji, Baolan
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2020/01/03
Insulin-like growth factor-1
Low-density lipoprotein cholesterol
Coronary heart disease
Short stature
A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum
期刊论文
2019, 卷号: 132, 期号: 14, 页码: 1681-1688
作者:
Huang, Jia
;
Liu, Hong-Yan
;
Wang, Rong-Rong
;
Xiao, Hai
;
Wu, Dong
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2020/01/03
Brachydactyly type E
Parathyroid-hormone-like hormone
Pectus carinatum
Short stature
Copy number variation
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
期刊论文
2019, 卷号: 104, 期号: 3, 页码: 439-453
作者:
Chang, Hae Ryung
;
Cho, Sung Yoon
;
Lee, Jae Hoon
;
Lee, Eunkyung
;
Seo, Jieun
收藏
  |  
浏览/下载:33/0
  |  
提交时间:2020/01/03
DNA repair
DNA replication
SPONASTRIME dysplasia
TONSL
rare genetic diseases
short stature
skeletal dysplasia
whole-exome sequencing
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