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复旦大学上海医学院 [7]
厦门大学 [1]
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上海神经科学研究所 [1]
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期刊论文 [12]
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Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract
期刊论文
MOLECULAR GENETICS AND GENOMICS, 2019, 卷号: 294, 期号: 2
作者:
Yang, Nan
;
Song, Chengcheng
;
Xu, Hong
;
Zhang, Feng
;
Wang, Hongyan
收藏
  |  
浏览/下载:33/0
  |  
提交时间:2019/12/05
CAKUT
Gene dosage
Noncoding variant
TBX6
Exploration of postnatal integrated management for prenatal renal and urinary tract anomalies in China.
期刊论文
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2019
作者:
Gong Yinv
;
Xu Hong
;
Li Yun
;
Zhou Yuqing
;
Zhan Minji
收藏
  |  
浏览/下载:14/0
  |  
提交时间:2019/12/05
Congenital anomalies of the kidney and urinary tract (CAKUT)
integrated management
outcome
postnatal
prenatal
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
期刊论文
NATURE GENETICS, 2019, 卷号: 51, 期号: 1
作者:
Verbitsky, Miguel
;
Westland, Rik
;
Perez, Alejandra
;
Kiryluk, Krzysztof
;
Liu, Qingxue
收藏
  |  
浏览/下载:21/0
  |  
提交时间:2019/12/05
Intrauterine low-protein diet disturbs metanephric gene expression and induces urinary tract developmental abnormalities in mice
期刊论文
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2019, 卷号: 513, 期号: 3
作者:
Yu, Minghui
;
Tan, Lihong
;
Chen, Jing
;
Zhai, Yihui
;
Wu, Xiaohui
收藏
  |  
浏览/下载:23/0
  |  
提交时间:2019/12/05
Intrauterine low-protein diet
Intrauterine growth retardation
Congenital anomalies of the kidney and urinary tract
CAKUT
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system
期刊论文
Clinical Genetics, 2019
作者:
Rao J.
;
Liu X.
;
Mao J.
;
Tang X.
;
Shen Q.
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2019/12/11
chronic kidney disease (CKD)
congenital anomalies of the kidney and urinary tract (CAKUT)
genetics
nephronophthisis (NPHP)
polycystic kidney disease PKD
renal disease
singleton-WES
steroid-resistant nephrotic syndrome (SRNS)
targeted gene sequence (TGS)
trio approach for WES (trio-WES)
whole-exome sequence (WES)
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
期刊论文
2019, 卷号: 51, 期号: 1, 页码: 117-+
作者:
Verbitsky, Miguel
;
Westland, Rik
;
Perez, Alejandra
;
Kiryluk, Krzysztof
;
Liu, Qingxue
收藏
  |  
浏览/下载:28/0
  |  
提交时间:2020/01/03
Early detection of congenital anomalies of the kidney and urinary tract: cross-sectional results of a community-based screening and referral study in China
期刊论文
BMJ OPEN, 2018, 卷号: 8, 期号: 5
作者:
Gong, Yinv
;
Zhang, Ying
;
Shen, Qian
;
Xiao, Liping
;
Zhai, Yihui
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/12/05
Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice
期刊论文
INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES, 2018, 卷号: 14, 期号: 1
作者:
Wang, Herui
;
Zhang, Chi
;
Wang, Xiaowen
;
Lian, Yaru
;
Guo, Bin
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/05
Evaluation of Renal Function in Children with Congenital Scoliosis and Congenital Anomalies of the Kidney and Urinary Tract
期刊论文
MEDICAL SCIENCE MONITOR, 2018, 卷号: 24, 页码: 4667-4678
作者:
Gao, Zhengchao
;
Wang, Zhengmou
;
Liu, Jiantao
;
Niu, Binbin
;
Yang, Wenlong
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/11/26
Kidney Function Tests
Pediatrics
Urogenital Abnormalities
Scoliosis
New congenital anomalies of the kidney and urinary tract and outcomes in Robo2 mutant mice with the inserted piggyBac transposon
期刊论文
BMC NEPHROLOGY, 2016, 卷号: 17
作者:
Liu, Jialu
;
Sun, Li
;
Shen, Qian
;
Wu, Xiaohui
;
Xu, Hong
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/05
CAKUT
VUR
Robo2
PiggyBac
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