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Elsevier电子期刊(202)
在“
Elsevier电子期刊
”中,
命中:
202
条,耗时:小于0.01 秒
在所有数据库中总计命中:
202
条
1.
Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis
作者:
Tetsuya Okazaki
a
;
t-okazaki@med.tottori-u.ac.jp
;
Yoshiaki Saito
a
;
b
;
Riyo Ueda
a
;
b
;
Takeya Awashima
b
;
Yoko Nishimura
a
;
Isao Yuasa
c
;
Yuki Shinohara
d
;
Kaori Adachi
e
;
Masayuki Sasaki
b
;
Eiji Nanba
e
;
Yoshihiro Maegaki
a
关键词:
Hypochondroplasia
;
FGFR3
;
Epileptic apnea
;
Temporal lobe epilepsy
;
Temporal lobe dysgenesis
刊名:Brain and Development
出版年:2017
2.
NCAM2 deletion in a boy with
macrocephaly
and autism: Cause, association or predisposition?
作者:
Caroline Scholz
a
;
scholz.caroline@mh-hannover.de" class="auth_mail" title="E-mail the corresponding author
;
Doris Steinemann
a
;
Madeleine Mä
;
lzer
a
;
Mandy Roy
b
;
Mine Arslan-Kirchner
a
;
Thomas Illig
a
;
c
;
Jö
;
rg Schmidtke
a
;
Manfred Stuhrmann
a
关键词:
Autism spectrum disorder
;
Macrocephaly
;
Neural cell adhesion
;
Molecule 2 protein (NCAM2)
;
Array comparative genomic hybridization (microarray)
刊名:European Journal of Medical Genetics
出版年:2016
3.
13q31.1 microdeletion: A prenatal case report with
macrocephaly
and macroglossia
作者:
Brice Poreau
a
;
b
;
1
;
Sté
;
phanie Lin
b
;
c
;
1
;
Caroline Bosson
a
;
b
;
Klaus Dieterich
a
;
b
;
d
;
Vé
;
ronique Satre
a
;
b
;
e
;
Franç
;
oise Devillard
a
;
Virginie Guigue
f
;
Candice Ronin
b
;
c
;
Sophie Brouillet
a
;
b
;
g
;
Christophe Barbier
h
;
Pierre-Simon Jouk
a
;
b
;
i
;
Charles Coutton
a
;
b
;
e
;
ccoutton@chu-grenoble.fr" class="auth_mail" title="E-mail the corresponding author
关键词:
13q31.1 microdeletion
;
SPRY2
;
NDFIP2
;
Rasopathies
;
Macroglossia
;
Macrocephaly
;
Array-CGH
;
Prenatal diagnosis
刊名:European Journal of Medical Genetics
出版年:2015
4.
Five patients with a chromosome 1q21.1 triplication show
macrocephaly
, increased weight and facial similarities
作者:
Anke Van Dijck
a
;
b
;
Anke.Vandijck@uantwerpen.be" class="auth_mail" title="E-mail the corresponding author
;
Ilse M. van der Werf
a
;
Edwin Reyniers
a
;
b
;
Stefaan Scheers
a
;
b
;
Meron Azage
c
;
Kiana Siefkas
d
;
Nathalie Van der Aa
a
;
Amy Lacroix
e
;
Jill Rosenfeld
f
;
Bob Argiropoulos
g
;
h
;
Kellie Davis
g
;
A.Micheil Innes
g
;
h
;
Heather C. Mefford
d
;
e
;
Geert Mortier
a
;
b
;
Marije Meuwissen
b
;
R.Frank Kooy
a
关键词:
1q21.1 triplication
;
Recurrent rearrangements
;
Genomic disorder
;
Macrocephaly
;
Overweight
刊名:European Journal of Medical Genetics
出版年:2015
5.
Proliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders
作者:
Carl Ernst
1
;
2
;
3
;
4
;
carl.ernst@mcgill.ca" class="auth_mail" title="E-mail the corresponding author
关键词:
neurodevelopmental disorders
;
neural stem cells
;
proliferation
;
differentiation
;
cancer
;
macrocephaly
;
microcephaly
;
induced pluripotent stem cell
刊名:Trends in Neurosciences
出版年:2016
6.
Macrocephaly
and right arm disuse in a 7-month-old boy
作者:
Michael D. Staudt
;
michael.staudt@londonhospitals.ca" class="auth_mail" title="E-mail the corresponding author
;
Jason D. Morgenstern
;
Andrea Neufeld
;
Adrianna Ranger
刊名:Journal of Clinical Neuroscience
出版年:2016
7.
Macrocephaly
and right arm disuse in a 7-month-old boy
作者:
Michael D. Staudt
;
michael.staudt@londonhospitals.ca" class="auth_mail" title="E-mail the corresponding author
;
Jason D. Morgenstern
;
Andrea Neufeld
;
Adrianna Ranger
刊名:Journal of Clinical Neuroscience
出版年:2016
8.
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I
作者:
Yanghui Zhang
a
;
Haoxian Li
a
;
b
;
Ruiyu Ma
a
;
Libin Mei
a
;
Xianda Wei
a
;
Desheng Liang
a
;
b
;
liangdesheng@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author
;
Lingqian Wu
a
;
b
;
wulingqian@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author
关键词:
Glutaric aciduria type I
;
GCDH
;
Splice site mutation
;
Newborn screening
刊名:Clinica Chimica Acta
出版年:2016
9.
A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33
作者:
Jin Wang
a
;
Chunyun Fu
a
;
Shujie Zhang
a
;
Jingsi Luo
a
;
Luping Ouyang
a
;
Bobo Xie
a
;
Weijia Sun
a
;
Sheng He
a
;
Jiasun Su
a
;
Xuyun Hu
a
;
Dongmei Fei
a
;
Rongyu Chen
a
;
Xin Fan
a
;
Shan Ou
a
;
Shaoke Chen
a
;
chenshaoke123@163.com" class="auth_mail" title="E-mail the corresponding author
;
Yiping Shen
a
;
b
;
c
;
Yiping.Shen@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
CMA
;
chromosome microarray analysis
;
SD
;
standard deviation
;
SNP
;
single nucleotide polymorphisms
;
βHCG
;
β-human chorionic gonadotrophin
;
PAPPA
;
pregnancy-associated plasma protein-A
;
NT
;
nuchal translucency
;
IUGR
;
intrauterine growth retardation
;
IVH
;
intraventricular hemorrhage
刊名:Gene
出版年:2016
10.
A case of Canavan disease with microcephaly
作者:
Vykuntaraju K. Gowda
a
;
drknvraju@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
drknvraju08@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Maya D. Bhat
b
;
Varun M. Srinivasan
c
;
Chandrajit Prasad
b
;
Asha Benakappa
c
;
Mohammed Faruq
d
关键词:
Canavan disease
;
Microcephaly
;
N-acetylaspartic acid (NAA)
刊名:Brain and Development
出版年:2016
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按检索点细分(202)
题名(49)
关键词(37)
文摘(173)
按出版年细分(202)
2027年及以后(15)
2017年(1)
2016年(9)
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2007年(13)
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2000年及以前(20)
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