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内部出版物
在“
Elsevier电子期刊
”中,
命中:
685
条,耗时:小于0.01 秒
1.
De Novo Disruption of the Proteasome Regulatory Subunit PS
MD1
2 Causes a Syndromic Neurodevelopmental Disorder
作者:
Sé
;
bastien Kü
;
ry
1
;
Thomas Besnard
1
;
Fré
;
dé
;
ric Ebstein
2
;
Tahir N. Khan
3
;
Tomasz Gambin
4
;
5
;
6
;
Jessica Douglas
7
;
Carlos A. Bacino
4
;
8
;
Stephan J. Sanders
9
;
Andrea Lehmann
2
;
Xé
;
nia Latypova
1
;
Kamal Khan
3
;
Mathilde Pacault
1
;
Stephanie Sacharow
7
;
Kimberly Glaser
10
;
Eric Bieth
11
;
Laurence Perrin-Sabourin
12
;
Marie-Line Jacquemont
13
;
Megan T. Cho
14
;
Elizabeth Roeder
4
;
15
;
Anne-Sophie Denommé
;
-Pichon
16
;
Kristin G. Monaghan
14
;
Bo Yuan
4
;
8
;
Fan Xia
4
;
8
;
Sylvain Simon
17
;
18
;
19
;
Dominique Bonneau
16
;
20
;
Philippe Parent
21
;
Brigitte Gilbert-Dussardier
22
;
23
;
Sylvie Odent
24
;
25
;
Annick Toutain
26
;
27
;
Laurent Pasquier
24
;
25
;
Deborah Barbouth
10
;
Chad A. Shaw
4
;
8
;
Ankita Patel
4
;
8
;
Janice L. Smith
4
;
8
;
Weimin Bi
4
;
8
;
Sé
;
bastien Schmitt
1
;
Wallid Deb
1
;
Mathilde Nizon
1
;
Sandra Mercier
1
;
Marie Vincent
1
;
Caroline Rooryck
28
;
Valé
;
rie Malan
29
;
Ignacio Briceñ
;
o
30
;
Alberto Gó
;
mez
30
;
Kimberly M. Nugent
15
;
James B. Gibson
31
;
Benjamin Cogné
;
1
;
James R. Lupski
4
;
32
;
33
;
Holly A.F. Stessman
34
;
Evan E. Eichler
34
;
35
关键词:
PS
MD1
2
;
intellectual disability
;
proteasome 26S
;
RPN5
;
ubiquitin
;
syndromic neurodevelopmental disorder
刊名:The American Journal of Human Genetics
出版年:2017
2.
Differential response of cassava genotypes to infection by cassava mosaic geminiviruses
作者:
Paul Kuria
a
;
b
;
Muhammad Ilyas
c
;
Elijah Ateka
a
;
Douglas Miano
d
;
Justus Onguso
a
;
James C. Carrington
c
;
Nigel J. Taylor
c
;
ntaylor@danforthcenter.org
关键词:
African cassava mosaic virus
;
East african cassava mosaic virus
;
Cassava mosaic disease
;
C
MD1
;
CMD2
;
CMD3
刊名:Virus Research
出版年:2017
3.
Behavioral outcomes of school-aged full-term small-for-gestational-age infants: A nationwide Japanese population-based study
作者:
Akihito Takeuchi
a
;
g
md1
8025@s.okayama-u.ac.jp
;
Takashi Yorifuji
b
;
Kyohei Takahashi
c
;
Makoto Nakamura
a
;
Misao Kageyama
a
;
Toshihide Kubo
c
;
Tatsuya Ogino
d
;
Katsuhiro Kobayashi
e
;
Hiroyuki Doi
f
关键词:
Small-for-gestational-age
;
Full-term
;
Behavior
;
School age
;
Attention
刊名:Brain and Development
出版年:2017
4.
A novel risk score model for prediction of contrast-induced nephropathy after emergent percutaneous coronary intervention
作者:
Kai-yang Lin
a
;
b
;
c
;
1
;
Wei-ping Zheng
c
;
1
;
Wei-jie Bei
b
;
1
;
Shi-qun Chen
b
;
1
;
Sheikh Mohammed Shariful Islam
d
;
Yong Liu
b
;
liuyongmd@126.com
;
Lin Xue
b
;
drxue@hotmail.com
;
Ning Tan
b
;
tanning100@126.com
;
Ji-yan Chen
a
;
b
;
chenjiyandr@126.com
关键词:
Contrast-induced nephropathy
;
Emergent percutaneous coronary intervention
;
Risk score model
;
Acute coronary syndromes
刊名:International Journal of Cardiology
出版年:2017
5.
Luteolin improves non-alcoholic fatty liver disease in db/db mice by inhibition of liver X receptor activation to down-regulate expression of sterol regulatory element binding protein 1c
作者:
Ye Yin
b
;
1
;
Lu Gao
b
;
1
;
Haiyan Lin
b
;
Yue Wu
b
;
Xiao Han
b
;
Yunxia Zhu
b
;
zhuyx@njmu.edu.cn
;
Jie Li
a
;
lijiemd@163.com
关键词:
Non-alcoholic fatty liver disease
;
Luteolin
;
Liver X receptor
;
Fatty acid
;
db/db mouse
刊名:Biochemical and Biophysical Research Communications
出版年:2017
6.
Copper toxicosis in non-COM
MD1
Bedlington terriers is associated with metal transport gene ABCA12
作者:
Susan Haywood
a
;
shaywood@liverpool.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Mike Boursnell
b
;
Michael J. Loughran
c
;
James Trafford
a
;
Diana Isherwood
a
;
Xuan Liu
d
;
Lisa Olohan
d
;
Stuart D. Carter
a
关键词:
Copper toxicosis
;
Bedlington terriers
;
COM
MD1
gene
;
ABCA12 gene
;
Wilson&rsquo
;
s disease
刊名:Journal of Trace Elements in Medicine and Biology
出版年:2016
7.
Identification of novel therapeutic targets in anaplastic thyroid carcinoma using functional genomic mRNA-profiling: Paving the way for new avenues?
作者:
Pascal K.C. Jonker
;
MSc
a
;
Gooitzen M. van Dam
;
MD
;
PhD
a
;
c
;
Sjoukje F. Oosting
;
MD
;
PhD
b
;
Schelto Kruijff
;
MD
;
PhD
a
;
&dagger
;
;
Rudolf S.N. Fehrmann
;
MD
;
PhD
b
;
&dagger
;
;
R.S.N.Fehrmann@umcg.nl
刊名:Surgery
出版年:2017
8.
Exact time-dependent solutions for the queue
作者:
Jung Woo Baek
a
;
jwbaek@chosun.ac.kr" class="auth_mail" title="E-mail the corresponding author
;
Ho Woo Lee
b
;
hwlee@skku.edu" class="auth_mail" title="E-mail the corresponding author
;
Soohan Ahn
c
;
sahn@uos.ac.kr" class="auth_mail" title="E-mail the corresponding author
;
Yun Han Bae
d
;
yhbae@smu.ac.kr" class="auth_mail" title="E-mail the corresponding author
关键词:
M/D/1M/D/1 queue
;
Time-dependent queue length probability
;
Time-dependent waiting time distribution
;
Closed-form solution
刊名:Operations Research Letters
出版年:2016
9.
An elderly-onset limb girdle muscular dystrophy type 1B (LG
MD1
B) with pseudo-hypertrophy of paraspinal muscles
作者:
Mitsuru Furuta
a
;
Hisae Sumi-Akamaru
a
;
Masanori P. Takahashi
a
;
Yukiko K. Hayashi
b
;
Ichizo Nishino
c
;
Hideki Mochizuki
a
;
hmochizuki@neurol.med.osaka-u.ac.jp" class="auth_mail" title="E-mail the corresponding author
关键词:
LMNA
;
Laminopathy
;
Limb-girdle muscular dystrophy type 1B
;
Pseudo-hypertrophy
;
Late-onset
刊名:Neuromuscular Disorders
出版年:2016
10.
Immune-mediated rippling muscle disease and myasthenia gravis
作者:
Mariela Bettini
a
;
mariela.bettini@hospitalitaliano.org.ar" class="auth_mail" title="E-mail the corresponding author
;
Hernan Gonorazky
a
;
Marcelo Chaves
a
;
Ernesto Fulgenzi
b
;
Alejandra Figueredo
c
;
Silvia Christiansen
a
;
Edgardo Cristiano
a
;
Enrico S. Bertini
d
;
Marcelo Rugiero
a
关键词:
iRMD
;
immune-mediated rippling muscle
;
MG
;
myasthenia gravis
;
CAV-3
;
caveolin 3
;
MGFA
;
Myasthenia Gravis Foundation of America
;
CT
;
computed tomography
;
MM-2
;
minimal manifestations-2
;
CK
;
creatin kinase
;
Ab
;
antibodies
;
AChR
;
acethylcoline receptor
;
Aza
;
azathioprin
;
CAV3
;
caveolin-3
;
PIS
;
post interventional status
;
Pyr
;
pyridostigmine
;
RS
;
repetitive stimulation
;
SFEMG
;
Single fiber electromyography
;
LG
MD1
C
;
limb-girdle muscular dystrophy type 1C
刊名:Journal of Neuroimmunology
出版年:2016
1
2
3
4
5
6
7
8
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