×
验证码:
换一张
忘记密码?
记住我
CORC
首页
科研机构
检索
知识图谱
申请加入
托管服务
登录
注册
在结果中检索
科研机构
中国医学科学院 北京... [8]
广州生物医药与健康研... [3]
湖南大学 [2]
北京大学 [1]
海洋研究所 [1]
复旦大学上海医学院 [1]
更多...
内容类型
期刊论文 [16]
发表日期
2019 [5]
2018 [1]
2017 [2]
2015 [2]
2013 [1]
2007 [3]
更多...
学科主题
Multidisci... [1]
Science & ... [1]
×
知识图谱
CORC
开始提交
已提交作品
待认领作品
已认领作品
未提交全文
收藏管理
QQ客服
官方微博
反馈留言
浏览/检索结果:
共16条,第1-10条
帮助
限定条件
内容类型:期刊论文
已选(
0
)
清除
条数/页:
5
10
15
20
25
30
35
40
45
50
55
60
65
70
75
80
85
90
95
100
排序方式:
请选择
作者升序
作者降序
题名升序
题名降序
发表日期升序
发表日期降序
提交时间升序
提交时间降序
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:64/0
  |  
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:48/0
  |  
提交时间:2019/12/13
16p11.2/TBX6
compound
inheritance
model
congenital
scoliosis
(CS)
gene
dosage
genotype-phenotype
correlation
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, 2019
作者:
Jiaqi Liu
;
Nan Wu
;
Deciphering Disorders Involving Scoliosis and COmorbidities study, Nan Yang
;
Kazuki Takeda
;
Weisheng Chen
收藏
  |  
浏览/下载:40/0
  |  
提交时间:2019/12/13
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease
期刊论文
2019
作者:
Li Jiacheng
;
Lu Chaoxia
;
Wu Wei
;
Liu Yaping
;
Wang Rongrong
收藏
  |  
浏览/下载:19/0
  |  
提交时间:2020/01/03
FBN1 mutation
Marfan syndrome
genotype-phenotype correlations
next-generation sequencing
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:35/0
  |  
提交时间:2020/01/03
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies
期刊论文
2018, 卷号: 16, 期号: 1, 页码: 241
作者:
Lu, Chaoxia
;
Wu, Wei
;
Liu, Fang
;
Yang, Kunqi
;
Li, Jiacheng
收藏
  |  
浏览/下载:17/0
  |  
提交时间:2020/01/03
Inherited cardiomyopathy
Mutation
Next generation sequencing
TTN
Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome
期刊论文
2017, 卷号: 474, 页码: 54-59
作者:
Li, Jiacheng
;
Wu, Wei
;
Lu, Chaoxia
;
Liu, Yaping
;
Wang, Rongrong
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2020/01/03
Marfan syndrome
MLPA
FBN1
Gross deletion
Phenotype
Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome
期刊论文
2017, 卷号: 628, 页码: 103-108
作者:
Zhang, Qian
;
Si, Nuo
;
Liu, Yaping
;
Zhang, Dong
;
Wang, Rong
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2020/01/03
X-linked ichthyosis
Ichthyosis vulgaris
Steroid sulfatase
Filaggrin
Moyamoya
Immunoglobulin E
Quick Genetic Screening Using Targeted Next-Generation Sequencing in Patients With Tuberous Sclerosis
期刊论文
2015, 卷号: 30, 期号: 5, 页码: 610-614
作者:
Liu, Qing
;
Huang, Yan
;
Zhang, Mingrong
;
Wang, Lian Qing
;
Guo, Xia Nan
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2020/01/13
tuberous sclerosis complex
mutation
next-generation sequencing
Sanger sequencing
messenger RNA decay
Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome
期刊论文
2015, 卷号: 128, 期号: 10, 页码: 1336-1339
作者:
Liu, Jia-Wei
;
Si, Nuo
;
Wang, Lian-Qing
;
Shen, Ti
;
Zeng, Xue-Jun
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2020/01/13
China
H syndrome
Novel Mutation
The Solute Carrier Family 29
Member 3 Gene
©版权所有 ©2017 CSpace - Powered by
CSpace