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(1)
SpringerLink电子期刊(3)
Elsevier电子期刊(6)
在“
SpringerLink电子期刊
”中,
命中:
3
条,耗时:小于0.01 秒
在所有数据库中总计命中:
10
条
1.
Limb
girdle
weakness responding to salbutamol: An Indian family with DOK7 mutation
作者:
Satish Khadilkar (1) (3)
A. Bhutada (1)
B. Nallamilli (2)
M. Hegde (2)
1. Department of Neurology
;
Grant Government Medical College and JJ Hospital
;
Mumbai
;
India
3. Bombay Hospital
;
110
;
New Wing
;
First Floor
;
12
;
New Marine Lines
;
Mumbai
;
400 020
;
India
2. Department of Human Genetics
;
Emory University School of Medicine
;
615 Michael Street
;
Atlanta
;
Georgia
;
30322
;
USA
关键词:
Congenital myasthenic syndrome
;
Mutational analysis
;
Treatment
刊名:Indian Pediatrics
出版年:2015
2.
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
作者:
Velina Guergueltcheva (12)
Juliane S. Müller (3)
Marina Dusl (1)
Jan Senderek (45)
Anders Oldfors (6)
Christopher Lindbergh (7)
Susan Maxwell (8)
Jaume Colomer (9)
Cecilia Jimenez Mallebrera (9)
Andres Nascimento (9)
Juan J. Vilchez (10)
Nuria Muelas (10)
Janbernd Kirschner (11)
Shahriar Nafissi (12)
Ariana Kariminejad (13)
Yalda Nilipour (14)
Bita Bozorgmehr (13)
Hossein Najmabadi (13)
Carmelo Rodolico (15)
J?rn P. Sieb (16)
Beate Schlotter (1)
Benedikt Schoser (1)
Ralf Herrmann (17)
Thomas Voit (18)
Ortrud K. Steinlein (19)
Abdolhamid Najafi (20)
Andoni Urtizberea (21)
Doriette M. Soler (22)
Francesco Muntoni (23)
Michael G. Hanna (24)
Amina Chaouch (3)
Volker Straub (3)
Kate Bushby (3)
Jacqueline Palace (25)
David Beeson (8)
Angela Abicht (1)
Hanns Lochmüller (3) hanns.lochmuller@ncl.ac.uk
关键词:
Congenital myasthenic syndromes –
Limb
;
girdle
myasthenia – Tubular aggregates – GFPT1 – Dok
7
刊名:Journal of Neurology
出版年:2012
3.
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in
DOK7
作者:
A. Ben Ammar
;
F. Petit
;
N. Alexandri
;
K. Gaudon
;
S. Bauch¨¦
;
A. Rouche
;
D. Gras
;
E. Fournier
;
J. Koenig and T. Stojkovic
;
et al.
关键词:
Congenital myasthenic syndrome
;
Neuromuscular junction
;
Mutations
;
DOK7
;
Phenotype
刊名:Journal of Neurology
出版年:2010
1
按检索点细分(3)
文摘(3)
按出版年细分(3)
2015年(1)
2012年(1)
2010年(1)
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
.