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科研机构
复旦大学上海医学院 [9]
山东大学 [5]
中国医学科学院 北京... [5]
上海电子信息职业技术... [4]
长春应用化学研究所 [3]
清华大学 [2]
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期刊论文 [42]
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2019 [4]
2018 [5]
2017 [4]
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otorhinola... [2]
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Accuracy of cardiac auscultation in detection of neonatal congenital heart disease by general paediatricians
期刊论文
CARDIOLOGY IN THE YOUNG, 2019, 卷号: 29, 期号: 5
作者:
Zhao, Qu-ming
;
Niu, Conway
;
Liu, Fang
;
Wu, Lin
;
Ma, Xiao-jing
收藏
  |  
浏览/下载:35/0
  |  
提交时间:2019/12/05
Congenital heart disease
newborn screening
cardiac auscultation
echocardiography
The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra
期刊论文
ANNALS OF TRANSLATIONAL MEDICINE, 2019, 卷号: 7, 期号: 12
作者:
Xian, A.
;
Qian, Yanyan
;
Li, Mingzhu
;
Lu, Yulan
;
Ren, Yan
收藏
  |  
浏览/下载:21/0
  |  
提交时间:2019/12/05
Phenylalanine hydroxylase (PAH)
Uygur
neonatal screening
gene mutation
genotyping
Screening and identification of RhD antigen mimic epitopes from a phage display random peptide library for the serodiagnosis of haemolytic disease of the foetus and newborn
期刊论文
BLOOD TRANSFUSION, 2019, 卷号: 17, 期号: 1
作者:
Wang, Jiao
;
Song, Jingjing
;
Zhou, Shuimei
;
Fu, Yourong
;
Bailey, Jeffrey A.
收藏
  |  
浏览/下载:14/0
  |  
提交时间:2019/12/05
mimotopes
phage display libraries
RhD antigen
HDFN
Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China
期刊论文
2019, 卷号: 105, 期号: 4, 页码: 803-812
作者:
Dai Pu
;
Huang Li-Hui
;
Wang Guo-Jian
;
Gao Xue
;
Qu Chun-Yan
收藏
  |  
浏览/下载:37/0
  |  
提交时间:2020/01/03
aminoglycoside antibiotics
deafness genes
genetic deafness
habilitation
late-onset hearing loss
microarray
newborn genetic screening
newborn hearing screening
ototoxicity
pathogenic variant
Fundus examination of 199 851 newborns by digital imaging in China: a multicentre cross-sectional study
期刊论文
BRITISH JOURNAL OF OPHTHALMOLOGY, 2018, 卷号: 102, 期号: 12, 页码: 1742-1746
作者:
Tang, He
;
Li, Na
;
Li, Zhan
;
Zhang, Meiju
;
Wei, Meirong
收藏
  |  
浏览/下载:66/0
  |  
提交时间:2019/03/01
The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine
期刊论文
MOLECULAR GENETICS AND METABOLISM REPORTS, 2018, 卷号: 17, 页码: 46-52
作者:
Li, Hong
;
Zhao, Lihua
;
Singh, Rani
;
Ham, J. Nina
;
Fadoju, Doris O.
收藏
  |  
浏览/下载:84/0
  |  
提交时间:2019/01/08
Glucagon receptor
Newborn screening
GCGR mutation
Hyperaminoacidemia
Mahvash disease
Pancreatic alpha cell hyperplasia (ACH)
Pancreatic neuroendocrine tumor (PNET)
Exposure Duration Is a Determinant of the Effect of Sinusoidal Electromagnetic Fields on Peak Bone Mass of Young Rats
期刊论文
CALCIFIED TISSUE INTERNATIONAL, 2018, 卷号: 103, 期号: 1, 页码: 95-106
作者:
Zhu, B. Y.
;
Yang, Z. D.
;
Chen, X. R.
;
Zhou, J.
;
Gao, Y. H.
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/11/15
Sinusoidal electromagnetic fields
Exposure duration
Osteoblasts
Peak bone mass
Bone mineral density
Hypoglycemia in unmonitored full-term newborns- a surveillance study
期刊论文
PAEDIATRICS & CHILD HEALTH, 2018, 卷号: 23, 期号: 8
作者:
Flavin, Michael P.
;
Osiovich, Horacio
;
Coughlin, Kevin
;
Sgro, Michael
;
Ray, Joel
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/12/05
Newborn
Hypoglycemia
Risk factors
Screening
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan
期刊论文
ORPHANET JOURNAL OF RARE DISEASES, 2018, 卷号: Vol.13
作者:
Chuang, CK
;
Lin, HY
;
Wang, TJ
;
Huang, YH
;
Chan, MJ
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/26
Mucopolysaccharidoses
Glycosaminoglycans
Tandem
mass
spectrometry
α-iduronidase
Iduronate-2-sulfatase
DNA
sequencing
analysis
MPS
newborn
screening
ASSESSMENT OF UNIVERSAL NEWBORN HEARING SCREENING AND INTERVENTION IN SHANGHAI, CHINA
期刊论文
INTERNATIONAL JOURNAL OF TECHNOLOGY ASSESSMENT IN HEALTH CARE, 2017, 卷号: 33, 期号: 2
作者:
Chen, Xiuzhi
;
Yuan, Min
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/05
Universal newborn hearing screening and intervention
Cost-benefit
Qualitative assessment
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