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复旦大学上海医学院 [4]
昆明医科大学 [3]
中国医学科学院 北京... [3]
清华大学 [2]
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河北省人民医院 [1]
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期刊论文 [16]
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A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I
期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 7
作者:
Zhang, Yu
;
Ma, Jing
;
Lin, Ken
;
Jiang, Hong-chao
;
Yang, Yanli
收藏
  |  
浏览/下载:17/0
  |  
提交时间:2019/12/04
gene mutation
hereditary deafness
PAX3
Waardenburg syndrome type I
A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II
期刊论文
MOLECULAR MEDICINE REPORTS, 2019, 卷号: 19, 期号: 3
作者:
Ma, Jing
;
Zhang, Zhen
;
Jiang, Hong-Chao
;
Sun, Hao
;
Ming, Cheng
收藏
  |  
浏览/下载:15/0
  |  
提交时间:2019/12/04
Waardenburg syndrome type 2
hereditary deafness
SRY-box 10 gene
gene mutation
Mutations in TOP2B cause autosomal-dominant hereditary hearing loss via inhibition of the PI3K-Akt signalling pathway
期刊论文
FEBS LETTERS, 2019, 卷号: 593, 期号: 15
作者:
Xia, Wenjun
;
Hu, Jiongjiong
;
Ma, Jing
;
Huang, Jianbo
;
Jing, Tianrui
收藏
  |  
浏览/下载:31/0
  |  
提交时间:2019/12/05
deafness genes
nonsyndromic hearing loss
PI3K-Akt signalling pathway
TOP2B
zebrafish
A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I
期刊论文
2019, 卷号: 7, 期号: 7, 页码: e798
作者:
Ma, Jing
;
Lin, Ken
;
Jiang, Hong-chao
;
Yang, Yanli
;
Zhang, Yu
收藏
  |  
浏览/下载:17/0
  |  
提交时间:2020/01/03
gene mutation
hereditary deafness
PAX3
Waardenburg syndrome type I
A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II
期刊论文
2019, 卷号: 19, 期号: 3, 页码: 1775-1780
作者:
Ma, Jing
;
Zhang, Zhen
;
Jiang, Hong-Chao
;
Sun, Hao
;
Ming, Cheng
收藏
  |  
浏览/下载:24/0
  |  
提交时间:2020/01/03
Waardenburg syndrome type 2
hereditary deafness
SRY-box 10 gene
gene mutation
Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene
期刊论文
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2016, 卷号: 85
作者:
Ma, Jing
;
Zhang, Tie-Song
;
Lin, Ken
;
Sun, Hao
;
Jiang, Hong-Chao
收藏
  |  
浏览/下载:13/0
  |  
提交时间:2019/12/04
Waardenburg syndrome type II
Hereditary deafness
SOX10 gene
Gene mutation
Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness
期刊论文
FRONTIERS OF MEDICINE, 2016, 卷号: 10, 期号: 2
作者:
Xia, Wenjun
;
Liu, Fei
;
Ma, Duan
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/05
hereditary non-syndromic hearing loss
mid-frequency hearing loss
deafness genes
Attitudes Toward Carrier Screening and Prenatal Diagnosis for Recessive Hereditary Deafness Among the Educated Population in Urban China
期刊论文
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 卷号: 170, 期号: 12
作者:
Fu, Xiaoli
;
Cai, Yi
;
Hu, Yechen
;
Liu, Jisheng
;
Yang, Tao
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/06
attitudes
carrier screening
prenatal diagnosis
deafness
general population
Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene
期刊论文
2016, 卷号: 85, 页码: 56-61
作者:
Ma, Jing
;
Zhang, Tie-Song
;
Lin, Ken
;
Sun, Hao
;
Jiang, Hong-Chao
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2020/01/04
Waardenburg syndrome type II
Hereditary deafness
SOX10 gene
Gene mutation
A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China
期刊论文
Intractable & Rare Diseases Research, 2015, 卷号: Vol.4 No.3, 页码: 131–138
作者:
Junzhen Zhu
;
Qinying Cao
;
Ning Zhang
;
Jun Ge
;
Donglan Sun
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/03/26
Hereditary
hearing
loss,
gene
mutation,
gene
chip,
time-of-flight
mass
spectrometry,
sequencing
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