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Wiley电子期刊(3)
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SpringerLink电子期刊(8)
Elsevier电子期刊(26)
在“
Elsevier电子期刊
”中,
命中:
26
条,耗时:小于0.01 秒
在所有数据库中总计命中:
39
条
1.
De novo TUBB2B mutation causes
fetal
akinesia
deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy
作者:
Annie Laquerriere
a
;
b
;
Marie Gonzales
c
;
d
;
Yoann Saillour
e
;
f
;
g
;
Mara Cavallin
g
;
h
;
i
;
Nicole Joyē
c
;
d
;
Chloé
;
Quēlin
j
;
Laurent Bidat
k
;
Marc Dommergues
d
;
l
;
Ghislaine Plessis
m
;
Ferechte Encha-Razavi
g
;
h
;
n
;
Jamel Chelly
o
;
p
;
Nadia Bahi-Buisson
g
;
h
;
i
;
1
;
nadia.bahi-buisson@nck.aphp.fr" class="auth_mail" title="E-mail the corresponding author
;
Karine Poirier
e
;
f
;
g
;
1
关键词:
Microlissencephaly
;
Microcephaly
;
Migration disorder
;
TUBB2B
;
Fetal
akinesia
deformation sequence
刊名:European Journal of Medical Genetics
出版年:2016
2.
AKINESIA
/HIPOKINESIA
FETAL
: UNA VENTANA AL MOVIMIENTO FETAL DURANTE EL DESARROLLO. ORIENTACIÓN CLÍNICA, ETIOLOGÍA Y DIAGNÓSTICO
作者:
Dra. Claudia Castiglioni
a
;
ccastiglioni@clc.cl" class="auth_mail" title="E-mail the corresponding author
;
Dra. Bernardita Suá
;
rez
a
;
b
;
Dr. Gabriel Anwandter
c
;
Dra. Rocí
;
o Corté
;
s
a
;
d
关键词:
Akinesia
;
hipokinesia
;
artrogriposis
;
amioplasia
;
enfermedades neuromusculares
刊名:Revista Médica Clínica Las Condes
出版年:2016
3.
A novel FOXP3 mutation causing
fetal
akinesia
and recurrent male miscarriages
作者:
William Rae
a
;
will.rae@nhs.net" class="auth_mail" title="E-mail the corresponding author
;
Yifang Gao
b
;
David Bunyan
c
;
Samantha Holden
d
;
Kimberly Gilmour
e
;
Sanjay Patel
f
;
Diana Wellesley
e
;
Anthony Williams
a
;
b
关键词:
Fetal
IPEX
;
FOXP3
;
Primary immunodeficiency
;
Fetal
akinesia
;
Recurrent miscarriage
刊名:Clinical Immunology
出版年:2015
4.
Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria
作者:
Gianina Ravenscroft
a
;
gina.ravenscroft@perkins.uwa.edu.au" class="auth_mail" title="E-mail the corresponding author
;
Nataliya Di Donato
b
;
Gabriele Hahn
c
;
Mark R. Davis
d
;
Paul D. Craven
e
;
Gemma Poke
f
;
Katherine R. Neas
f
;
Teresa M. Neuhann
g
;
William B. Dobyns
h
;
Nigel G. Laing
a
;
d
关键词:
Arthrogryposis
;
Fetal
akinesia
;
BICD2
;
Perisylvian polymicrogyria
刊名:Neuromuscular Disorders
出版年:2016
5.
Prenatal diagnosis and genetic analysis of
fetal
akinesia
deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: A review
作者:
Chih-Ping Chen
a
;
b
;
c
;
d
;
e
;
f
;
g
;
cpc_mmh@yahoo.com
关键词:
CHRNA1
;
CHRND
;
CHRNG
;
CNTN1
;
DOK7
;
fetal
akinesia
deformation sequence
;
multiple pterygium syndrome
;
prenatal diagnosis
;
RAPSN
;
SYNE1
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2012
6.
Fetal
akinesia
caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation
作者:
Werner Stenzel
;
Stefan Prokop
;
Wolfram Kress
;
Stephanie Huppmann
;
Andrea Loui
;
Nanette M.E. Sarioglu
;
Nigel G. Laing
;
John C. Sparrow
;
Frank L. Heppner
;
Hans H. Goebel
关键词:
ACTA1
;
Nemaline myopathy
;
Actin filament aggregate myopathy
;
Fetal
akinesia
sequence
刊名:Neuromuscular Disorders
出版年:2010
7.
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
作者:
Gianina Ravenscroft
;
Satoko Miyatake
;
Vilma-Lotta Lehtokari
;
Emily?J. Todd
;
Pauliina Vornanen
;
Kyle?S. Yau
;
Yukiko?K. Hayashi
;
Noriko Miyake
;
Yoshinori Tsurusaki
;
Hiroshi Doi
;
Hirotomo Saitsu
;
Hitoshi Osaka
;
Sumimasa Yamashita
;
Takashi Ohya
;
Yuko Sakamoto
;
Eriko Koshimizu
;
Shintaro Imamura
;
Michiaki Yamashita
;
Kazuhiro Ogata
;
Masaaki Shiina
;
et al.
刊名:The American Journal of Human Genetics
出版年:2013
8.
Current status of the congenital myasthenic syndromes
作者:
Andrew G. Engel
;
age@mayo.edu
关键词:
Congenital myasthenic syndrome
;
Neuromuscular junction
;
EMG
;
Choline acetyltransferase
;
ColQ ¦Â2-laminin
;
Acetylcholine receptor
;
Rapsyn
;
Agrin
;
MuSK
;
Dok-7
;
GFPT1
;
Plectin
;
Fetal
akinesia
syndrome
刊名:Neuromuscular Disorders
出版年:2012
9.
ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity
作者:
Hiromi Hirata
1
;
25
;
Indrajit Nanda
2
;
25
;
Anne van Riesen
3
;
25
;
Gai McMichael
4
;
25
;
Hao Hu
5
;
25
;
Melanie Hambrock
5
;
Marie-Amé
;
lie Papon
6
;
7
;
Ute Fischer
5
;
Sylviane Marouillat
6
;
7
;
Can Ding
3
;
Servane Alirol
6
;
7
;
Melanie Bienek
5
;
Sabine Preisler-Adams
8
;
Astrid Grimme
5
;
Dominik Seelow
3
;
Richard Webster
9
;
Eric Haan
10
;
11
;
Alastair MacLennan
4
;
Werner Stenzel
12
;
Tzu Ying Yap
11
;
Alison Gardner
13
;
Lam Son Nguyen
11
;
Marie Shaw
11
;
Nicolas Lebrun
14
;
15
;
Stefan A. Haas
16
;
Wolfram Kress
2
;
Thomas Haaf
2
;
Elke Schellenberger
17
;
Jamel Chelly
14
;
15
;
Gé
;
raldine Viot
18
;
Lisa G. Shaffer
19
;
26
;
Jill A. Rosenfeld
19
;
Nancy Kramer
20
;
Rena Falk
21
;
Dima El-Khechen
22
;
Luis F. Escobar
22
;
Raoul Hennekam
23
;
Peter Wieacker
8
;
Christoph Hü
;
bner
3
;
Hans-Hilger Ropers
5
;
Jozef Gecz
11
;
13
;
Markus Schuelke
3
;
markus.schuelke@charite.de
;
Fré
;
dé
;
ric Laumonnier
6
;
7
;
24
;
Vera M. Kalscheuer
5
;
kalscheu@molgen.mpg.de
刊名:The American Journal of Human Genetics
出版年:2013
10.
P.9.1 Clinical and histopathological features of nemaline myopathy
作者:
M. Karakaya
;
B. Talim
;
G. Kale
;
H. Topaloglu
刊名:Neuromuscular Disorders
出版年:2013
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