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
Elsevier电子期刊(6)
ACS电子期刊(1)
在“
Elsevier电子期刊
”中,
命中:
6
条,耗时:小于0.01 秒
在所有数据库中总计命中:
7
条
1.
Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
作者:
Matthias Baumann
1
;
14
;
matthias.baumann@uki.at
;
Cecilia Giunta
2
;
14
;
Birgit Krabichler
3
;
Franz Rü
;
schendorf
4
;
Nicoletta Zoppi
5
;
Marina Colombi
5
;
Reginald
;
E. Bittner
6
;
Susana Quijano-Roy
7
;
Francesco Muntoni
8
;
Sebahattin Cirak
8
;
Gudrun
Schreiber
9
;
Yaqun Zou
10
;
Ying Hu
10
;
Norma
;
Beatriz Romero
11
;
Robert
;
Yves Carlier
12
;
Albert Amberger
3
;
Andrea Deutschmann
3
;
Volker Straub
13
;
Marianne Rohrbach
2
;
Beat Steinmann
2
;
Kevin Rostá
;
sy
1
;
Daniela Karall
1
;
3
;
Carsten
;
G. Bö
;
nnemann
10
;
Johannes Zschocke
3
;
Christine Fauth
3
;
christine.fauth@i-med.ac.at
刊名:The American Journal of Human Genetics
出版年:2012
2.
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations
作者:
Ulrike Schara
;
Hans-Jü
;
rgen Christen
;
Hacer Durmus
;
Marja Hietala
;
Kerstin Krabetz
;
Carmelo Rodolico
;
Gudrun
Schreiber
;
Haluk Topaloglu
;
Beril Talim
;
Wolfgang Voss
;
Helena Pihko
;
Angela Abicht
;
Ju
关键词:
Congenital myasthenic syndromes
;
Choline acetyltransferase
;
CHAT
;
Repetitive stimulation test
;
Acetylcholinesterase
;
Inhibitors
刊名:European Journal of Paediatric Neurology
出版年:2010
3.
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy
作者:
Ulrike Schara
;
Wolfram Kress
;
Carsten G. Bö
;
nnemann
;
Nico Breitbach-Faller
;
Christoph G. Korenke
;
Gudrun
Schreiber
;
Mechthild Stoetter
;
Ana Ferreiro
;
Maja von der Hagen
关键词:
Selenoprotein
;
Selenoprotein N1-related myopathies
;
Rigid spine
;
Congenital myopathies
;
Respiratory failure
刊名:European Journal of Paediatric Neurology
出版年:2008
4.
0664: Contrast Enhanced Ultrasound in the Characterisation of Renal Masses
作者:
Andre Ignee
;
Dagmar
Schreiber
;
Gudrun
Schuessler
;
Johannes Wolff
;
Christoph F. Dietrich
刊名:Ultrasound in Medicine and Biology
出版年:2009
5.
Quantitative proton MRS of cerebral metabolites in laminin α2 chain deficiency
作者:
Knut Brockmann
;
Peter Dechent
;
Carsten Bö
;
nnemann
;
Gudrun
Schreiber
;
Jens Frahm
;
Folker Hanefeld
关键词:
Congenital muscular dystrophy
;
Laminin α
;
2 chain
;
Leukoencephalopathy
;
MR spectroscopy
刊名:Brain and Development
出版年:2007
6.
Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood
作者:
Knut Brockmann
;
Peter Becker
;
Gudrun
Schreiber
;
Karin Neubert
;
Edgar Brunner
;
Carsten Bö
;
nnemann
刊名:Neuromuscular Disorders
出版年:2007
1
按检索点细分(6)
作者(6)
按出版年细分(6)
2012年(1)
2010年(1)
2009年(1)
2008年(1)
2007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
.