设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
Wiley电子期刊(2)
Springer电子图书(1)
SpringerLink电子期刊(6)
Elsevier电子期刊(12)
在“
SpringerLink电子期刊
”中,
命中:
6
条,耗时:0.0139986 秒
在所有数据库中总计命中:
21
条
1.
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
作者:
Mina Yang
;
Sung Yun Cho
;
Hyung-Doo Park
;
Rihwa Choi…
关键词:
GNPTAB
;
Lysosomal storage disease
;
Mucolipidosis
;
Prenatal diagnosis
刊名:Orphanet Journal of Rare Diseases
出版年:2017
2.
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis
作者:
Ankur Singh
;
Rajniti Prasad
;
Aditya Kumar Gupta…
关键词:
Mucolipidosis type II alpha/beta (ML II alpha/beta)
p ;
nitrocatechol sulphate (p
;
NCS)
;
Molecular characterization
;
GNPTAB
刊名:The Indian Journal of Pediatrics
出版年:2017
3.
Association study of stuttering candidate genes
GNPTAB
, GNPTG and NAGPA with dyslexia in Chinese population
作者:
Huan Chen (1)
Junquan Xu (2) (3)
Yuxi Zhou (2) (3)
Yong Gao (2) (3)
Guoqing Wang (2) (3)
Jiguang Xia (2) (3)
Michael SY Huen (4)
Wai Ting Siok (5) (6)
Yuyang Jiang (7)
Li Hai Tan (8) (9)
Yimin Sun (10) (2) (3) (7)
1. State Key Laboratory of Proteomics
;
Beijing Proteome Research Center
;
Beijing Institute of Radiation Medicine
;
Beijing
;
102206
;
China
2. National Engineering Research Center for Beijing Biochip Technology
;
Beijing
;
102206
;
China
3. CapitalBio Corporation
;
Beijing
;
102206
;
China
4. Department of Anatomy
;
The University of Hong Kong
;
Hong Kong
;
China
5. State Key Laboratory of Brain and Cognitive Sciences
;
The University of Hong Kong
;
Hong Kong
;
China
6. School of Humanities
;
The University of Hong Kong
;
Hong Kong
;
China
7. The State Key Laboratory Breeding Base-Shenzhen Key Laboratory of Chemical Biology
;
The Graduate School at Shenzhen
;
Tsinghua University
;
Shenzhen
;
China
8. Neuroimaging Laboratory
;
Department of Biomedical Engineering
;
School of Medicine
;
Shenzhen University
;
Shenzhen
;
China
9. Guangdong Key Laboratory of Biomedical Information Detection and Ultrasound Imaging
;
Shenzhen
;
518060
;
China
10. Medical Systems Biology Research Center
;
Department of Biomedical Engineering
;
Tsinghua University School of Medicine
;
Beijing
;
China
关键词:
Developmental dyslexia
;
GNPTAB
;
GNPTG
;
NAGPA
;
SNPs
刊名:BMC Genetics
出版年:2015
4.
Genetic approaches to understanding the causes of stuttering
作者:
Dennis Drayna (1)
Changsoo Kang (1)
关键词:
Stuttering
;
Genetics
;
Linkage
;
GNPTAB
;
GNPTG
;
NAGPA
刊名:Journal of Neurodevelopmental Disorders
出版年:2011
5.
Molecular analysis of the GlcNac-1-phosphotransferase
作者:
T. Braulke
;
S. Pohl and S. Storch
刊名:Journal of Inherited Metabolic Disease
出版年:2008
6.
Molecular analysis of the GlcNac-1-phosphotransferase
作者:
T. Braulke
;
S. Pohl and S. Storch
刊名:Journal of Inherited Metabolic Disease
出版年:2008
1
按检索点细分(6)
题名(1)
关键词(4)
文摘(5)
按出版年细分(6)
2017年(2)
2015年(1)
2011年(1)
2008年(2)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.