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
SpringerLink电子期刊(2)
NATURE电子期刊(1)
在“
SpringerLink电子期刊
”中,
命中:
2
条,耗时:小于0.01 秒
在所有数据库中总计命中:
3
条
1.
Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy
作者:
Mariana Gutierrez
;
Isabelle Thiffault
;
Kether
Guerrero
…
关键词:
4H leukodystrophy
;
Pol III (POLR3)
;
related leukodystrophy
;
POLR3A
;
POLR3B
;
Deletion
刊名:Orphanet Journal of Rare Diseases
出版年:2015
2.
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy
作者:
Alireza Kashani (1)
Isabelle Thiffault (1) (2)
Marie-Emmanuelle Dilenge (1)
Christine Saint-Martin (3)
Kether
Guerrero
(1)
Luan T. Tran (1)
Eric Shoubridge (4)
Marjo S. van der Knaap (5)
Nancy Braverman (6) (7)
Geneviève Bernard (1)
关键词:
Complex I deficiency
;
NDUFS1
;
Progressive cavitating encephalopathy
;
Leukodystrophy
刊名:neurogenetics
出版年:2014
1
按检索点细分(2)
作者(2)
按出版年细分(2)
2015年(1)
2014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
.