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山东大学 [6]
中国医学科学院 北京... [5]
上海药物研究所 [2]
厦门大学 [1]
华南理工大学 [1]
武汉大学 [1]
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期刊论文 [18]
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Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency
期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 6
作者:
Xu, Chao
;
Jia, Wenyu
;
Cheng, Xiangdeng
;
Ying, Hui
;
Chen, Jing
收藏
  |  
浏览/下载:29/0
  |  
提交时间:2019/12/11
congenital adrenal hyperplasia (CAH)
CYP21A2
genotype-phenotype
associations
mutation
steroid 21-hydroxylase deficiency (21OHD)
Steroid metabolism gene variants and their genotype-phenotype correlations in Chinese early-onset hypertension patients
期刊论文
2019, 卷号: 42, 期号: 10, 页码: 1536-1543
作者:
Qin Fang
;
Liu Kai
;
Zhang Ce
;
Sun Xiaolu
;
Zhang Yang
收藏
  |  
浏览/下载:52/0
  |  
提交时间:2020/01/03
congenital adrenal hyperplasia
genotype–phenotype correlation
hypertension
rare variant
steroid metabolism
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree
期刊论文
MOLECULAR MEDICINE REPORTS, 2018, 卷号: 17, 期号: 3, 页码: 4265-4272
作者:
Liu, Jia
;
Zhang, Xiujuan
;
Zhang, Haiqing
;
Fang, Li
;
Xu, Jin
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/11
21-hydroxylase deficiency
congenital adrenal hyperplasia
cytochrome
P450 family 21 subfamily A member 2
mutation
Computed tomography findings of testicular adrenal rest tumors resulted from 21-hydroxylase deficiency
期刊论文
JOURNAL OF X-RAY SCIENCE AND TECHNOLOGY, 2018, 卷号: 26, 期号: 2, 页码: 341-346
作者:
Li, Xiao
;
Xu, Zhuodong
;
Wang, Ximing
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/11
Computed tomography
congenital adrenal hyperplasia
testicular adrenal
rest tumors
Ovarian Adrenal Rest Tumors Undetected by Imaging Studies and Identified at Surgery in Three Females with Congenital Adrenal Hyperplasia Unresponsive to Increased Hormone Therapy Dosage
期刊论文
ENDOCRINE PATHOLOGY, 2017, 卷号: 28, 页码: 146-151
作者:
Chen, Hua-dong[1]
;
Huang, Li-e[1]
;
Zhong, Zhi-hai[1]
;
Su, Zhe[2]
;
Jiang, Hong[1]
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2019/04/24
Adrenal rest tumor
Ovarian adrenal rest tumor
Congenital adrenal hyperplasia
Laparoscopy
A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia
期刊论文
2017, 卷号: 96, 期号: 21, 页码: e6994
作者:
Fu Rong
;
Lu Lin
;
Jiang Jun
;
Nie Min
;
Wang Xiaojing
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2020/01/04
congenital adrenal hyperplasia
lipoid congenital adrenal hyperplasia
STAR mutation
Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations
期刊论文
2017, 卷号: 45, 期号: 2, 页码: 481-492
作者:
Zhang Bo
;
Lu Lin
;
Lu Zhaolin
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2020/01/04
21-hydroxylase deficiency
CYP21A2
Congenital adrenal hyperplasia
genotype
phenotype
steroid 21-monooxygenase
Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11 beta-hydroxylase deficiency
期刊论文
2015, 卷号: 100, 页码: 11-16
作者:
Wang, Xiaojing
;
Nie, Min
;
Lu, Lin
;
Tong, Anli
;
Chen, Shi
收藏
  |  
浏览/下载:11/0
  |  
提交时间:2020/01/13
Congenital adrenal hyperplasia
11-Beta-hydroxylase deficiency
CYP11B1
Mutation
Chimeric CYP11B2/CYP11B1 causing 11 beta-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia
期刊论文
2015, 卷号: 101, 页码: 51-55
作者:
Xu, Lingling
;
Xia, Weibo
;
Wu, Xueyan
;
Wang, Xiaojing
;
Zhao, Lili
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2020/01/13
11 beta-Hydroxylase deficiency
Chimeric CYP11B2/CYP11B1
Congenital adrenal hyperplasia
Mutation
Identifying a novel mutation of CYP17A1 gene from five Chinese 17??-hydroxylase/17, 20-lyase deficiency patients
期刊论文
Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function, 2013, 卷号: 516, 期号: 2, 页码: 345-350
作者:
Han,B.
;
Liu,W.
;
Zuo,C.-L.
;
Zhu,H.
;
Li,L.
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/23
17??-Hydroxylase/17
20-Lyase deficiency
Congenital adrenal hyperplasia
CYP17A1 gene
Male pseudohermaphroditism
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