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Springer电子图书(2)
CNKI学位论文(53)
CNKI期刊论文0611(1)
知网期刊论文(38)
在“
Elsevier电子期刊
”中,
命中:
66
条,耗时:0.0239836 秒
在所有数据库中总计命中:
94
条
1.
Prenatal diagnosis of
Smith
-
Magenis
syndrome
in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects
作者:
Ting-Ying Lei
;
Ru Li
;
Fang Fu
;
Jun-Hui Wan
;
Yong-Ling Zhang
;
Xiang-Yi Jing
;
Can Liao
;
canliao@hotmail.com
关键词:
chromosome microarray analysis
;
congenital heart defects
;
increased nuchal translucency
;
prenatal diagnosis
;
Smith
&ndash
;
Magenis
syndrome
刊名:Taiwanese Journal of Obstetrics and Gynecology
出版年:2016
2.
Individuals with
Smith
-
Magenis
syndrome
display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi
syndrome
作者:
Joseph T. Alaimo
a
;
Laura V. Barton
b
;
Sureni V. Mullegama
a
;
Rachel D. Wills
a
;
Rebecca H. Foster
c
;
d
;
Sarah H. Elsea
a
;
b
;
elsea@bcm.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Smith
-
Magenis
syndrome
;
Prader-Willi
syndrome
;
Intellectual disability
;
Neurodevelopmental disorders
;
Behavior Problems Inventory
;
Food Related Problems Questionnaire
;
Obesity
刊名:Research in Developmental Disabilities
出版年:2015
3.
A structured assessment of motor function and behavior in patients with Kleefstra
syndrome
作者:
Susanne Schmidt
a
;
1
;
Heidi E. Nag
a
;
Bente S. Hunn
a
;
Gunnar Houge
b
;
Lise B. Hoxmark
a
;
lbh@frambu.no" class="auth_mail" title="E-mail the corresponding author
关键词:
Kleefstra
syndrome
;
Rare disorder
;
Motor function
;
Behavior
;
Autism spectrum disorders
;
Sleep
;
Growth
刊名:European Journal of Medical Genetics
出版年:2016
4.
Bilateral renal tumors in an adult man with
Smith
-
Magenis
syndrome
: The role of the FLCN gene
作者:
Leila Dardour
a
;
leiladardour.ferhi@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Pieter Verleyen
b
;
Karl Lesage
b
;
Maureen Holvoet
a
;
Koen Devriendt
a
;
koenraad.devriendt@uzleuven.be" class="auth_mail" title="E-mail the corresponding author
刊名:European Journal of Medical Genetics
出版年:2016
5.
Molecular and Neural Functions of Rai1, the Causal Gene for
Smith
-
Magenis
Syndrome
作者:
Wei-Hsiang Huang
1
;
2
;
7
;
weihsiah@stanford.edu" class="auth_mail" title="E-mail the corresponding author
;
Casey J. Guenthner
1
;
2
;
3
;
7
;
Jin Xu
4
;
7
;
Tiffany Nguyen
5
;
Lindsay A. Schwarz
1
;
2
;
Alex W. Wilkinson
2
;
Or Gozani
2
;
Howard Y. Chang
4
;
Mehrdad Shamloo
5
;
6
;
Liqun Luo
1
;
2
;
3
;
8
;
lluo@stanford.edu" class="auth_mail" title="E-mail the corresponding author
刊名:Neuron
出版年:2016
6.
TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development
作者:
Neil Romberg
;
MD
a
;
neil.romberg@yale.edu" class="auth_mail" title="E-mail the corresponding author
;
Manmeet Virdee
;
BS
a
;
Nicolas Chamberlain
;
BS
b
;
Tyler Oe
;
BA
b
;
Jean-Nicolas Schickel
;
PhD
b
;
Tiffany Perkins
;
MD
a
;
Tineke Cantaert
;
PhD
b
;
Rima Rachid
;
MD
c
;
Sally Rosengren
;
MD
d
;
Regina Palazzo
;
MD
a
;
Raif Geha
;
MD
;
PhD
c
;
Charlotte Cunningham-Rundles
;
MD
;
PhD
e
;
Eric Meffre
;
PhD
b
;
f
;
eric.meffre@yale.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
TNFRSF13B
;
transmembrane activator and CAML interactor
;
B-cell tolerance
;
common variable immune deficiency
;
Smith
-
Magenis
syndrome
刊名:Journal of Allergy and Clinical Immunology
出版年:2015
7.
The nature of social preference and interactions in
Smith
-
Magenis
syndrome
作者:
Lucy Wilde
;
Daniel Silva
;
Chris Oliver
关键词:
Smith
&ndash
;
Magenis
syndrome
;
Social behaviour
;
Attention-seeking
;
Down
syndrome
;
Natural observation
刊名:Research in Developmental Disabilities
出版年:December, 2013
8.
Molecular characterization of near-complete trisomy 17p
syndrome
from inverted duplication in association with cryptic deletion of 17pter
作者:
Chang-Hun Park
;
Hee-Jin Kim
;
Seung-Tae Lee
;
Jeong Meen Seo
;
Sun-Hee Kim
关键词:
T17P
;
trisomy of the short arm of chromosome 17
;
17pter
;
17p terminal end
;
SNP
;
single nucleotide polymorphism
;
SMS
;
Smith
&ndash
;
Magenis
syndrome
;
PMP22
;
peripheral myelin protein 22 gene
;
ISCN
;
International System for Human Cytogenetic Nomenclature
;
FISH
;
fluorescence in situ hybridization
;
RARA
;
retinoic acid receptor
;
alpha gene
;
MLPA
;
multiplex ligation-dependent probe amplification
;
TP53
;
tumor protein p53 gene
;
RPH3AL
;
rabphilin 3A-like (without C2 domains) gene
;
DOC2B
;
double C2 beta gen
刊名:Gene
出版年:10 March, 2014
9.
The prevalence of aggression in genetic
syndrome
s: A review
作者:
Laurie Powis
;
Chris Oliver
;
C.Oliver@bham.ac.uk" class="auth_mail
关键词:
Intellectual disability
;
Behavioural phenotype
;
Genetic
syndrome
;
Prevalence
;
Aggression
刊名:Research in Developmental Disabilities
出版年:May, 2014
10.
Cognitive functioning in children and adults with
Smith
-
Magenis
syndrome
作者:
Ana Osó
;
rio
a
;
1
;
Raquel Cruz
b
;
c
;
1
;
Adriana Sampaio
a
;
Elena Garayzá
;
bal
d
;
Á
;
ngel Carracedo
b
;
c
;
e
;
Montse Ferná
;
ndez-Prieto
b
;
c
;
e
;
montse.fernandez.prieto@usc.es
关键词:
Smith
-
Magenis
syndrome
;
Cognitive profile
;
Neurodevelopment
刊名:European Journal of Medical Genetics
出版年:2012
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