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中国医学科学院 北京... [9]
复旦大学上海医学院 [5]
山东大学 [4]
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期刊论文 [23]
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TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model
期刊论文
GENETICS IN MEDICINE, 2019, 卷号: 21, 期号: 7
作者:
Liu, Jiaqi
;
Wu, Nan
;
Yang, Nan
;
Takeda, Kazuki
;
Chen, Weisheng
收藏
  |  
浏览/下载:63/0
  |  
提交时间:2019/12/05
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
TBX6-associated congenital scoliosis as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
期刊论文
Genetics in medicine : official journal of the American College of Medical Genetics, 2019
作者:
Jiaqi Liu
;
Nan Wu
;
Nan Yang
;
Kazuki Takeda
;
Weisheng Chen
收藏
  |  
浏览/下载:47/0
  |  
提交时间:2019/12/13
16p11.2/TBX6
compound
inheritance
model
congenital
scoliosis
(CS)
gene
dosage
genotype-phenotype
correlation
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
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease
期刊论文
2019
作者:
Chen Weisheng
;
Lin Jiachen
;
Wang Lianlei
;
Li Xiaoxin
;
Zhao Sen
收藏
  |  
浏览/下载:32/0
  |  
提交时间:2020/01/03
TBX6 gene
compound inheritance model
congenital scoliosis (CS)
gene dosage
genotype-phenotype correlation
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
期刊论文
2019, 卷号: 121, 页码: 212-220
作者:
Zhang, Cong
;
Zhao, Zhen
;
Sun, Yue
;
Xu, Lijun
;
JiaJue, Ruizhi
收藏
  |  
浏览/下载:11/0
  |  
提交时间:2020/01/03
X-linked hypophosphatemia (XLH)
PHEX
Genetic analysis
Sex difference
Genotype-phenotype correlation
3D model of PHEX
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model
期刊论文
2019, 卷号: 21, 期号: 7, 页码: 1548-1558
作者:
Liu, Jiaqi
;
Wu, Nan
;
Yang, Nan
;
Takeda, Kazuki
;
Chen, Weisheng
收藏
  |  
浏览/下载:33/0
  |  
提交时间:2020/01/03
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
A novel genotype-based clinicopathology classification of arrhythmogenic cardiomyopathy provides novel insights into disease progression
期刊论文
2019, 卷号: 40, 期号: 21, 页码: 1690-1703
作者:
Chen Liang
;
Song Jiangping
;
Chen Xiao
;
Chen Kai
;
Ren Jie
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/03
Arrhythmogenic cardiomyopathy
Cardiovascular pathology
Classification
Genotype–phenotype correlation
Heart transplantation
Co-Existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers
期刊论文
CURRENT MOLECULAR MEDICINE, 2018, 卷号: 18, 期号: 5
作者:
Chen, X.
;
Sheng, X.
;
Liu, G.
;
Liu, Y.
;
Li, H.
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/05
Retinitis pigmentosa
X-linked
mutation
RPGR
PDE6A
genotype-phenotype correlation
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review
期刊论文
MEDICINE, 2018, 卷号: 97, 期号: 32
作者:
Ma, Dan
;
Wang, Xuxia
;
Guo, Jun
;
Zhang, Jun
;
Cai, Tao
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/11
cleidocranial dysplasia
phenotype-genotype correlation
RUNX2
supernumerary teeth
Co-Existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers
期刊论文
CURRENT MOLECULAR MEDICINE, 2018, 卷号: 18, 期号: 5, 页码: 306-311
作者:
Chen, X.
;
Sheng, X.
;
Liu, G.
;
Liu, Y.
;
Li, H.
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/11
Retinitis pigmentosa
X-linked
mutation
RPGR
PDE6A
genotype-phenotype correlation
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