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CNKI学位论文(89)
CNKI期刊论文0611(1)
知网期刊论文(56)
在“
Elsevier电子期刊
”中,
命中:
61
条,耗时:小于0.01 秒
在所有数据库中总计命中:
146
条
1.
Prader-Willi syndrome and atypical
submicroscopic
15q11-q13
deletions
with or without imprinting defects
作者:
Maaz Hassan
a
;
b
;
Merlin G. Butler
a
;
b
;
mbutler4@kumc.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
15q11-q13 region
;
Atypical microdeletion
;
SNORD116
;
SNURF-SNRPN
;
Imprinting center defect
;
Prader-Willi syndrome
刊名:European Journal of Medical Genetics
出版年:2016
2.
Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort
作者:
Birgitte Bertelsen
a
;
Hreinn Stefá
;
nsson
b
;
Lars Riff Jensen
c
;
Linea Melchior
a
;
Nanette Mol Debes
d
;
Camilla Groth
d
;
Liselotte Skov
d
;
Thomas Werge
e
;
f
;
g
;
Iordanis Karagiannidis
h
;
Zsanett Tarnok
a
;
Csaba Barta
j
;
Peter Nagy
i
;
Luca Farkas
i
;
Karen Brø
;
ndum-Nielsen
a
;
Renata Rizzo
k
;
Mariangela Gulisano
k
;
Dan Rujescu
l
;
Lambertus A. Kiemeney
m
;
Sarah Tosato
n
;
Muhammad Sulaman Nawaz
b
;
Andres Ingason
b
;
Unnur Unnsteinsdottir
b
;
Stacy Steinberg
b
;
Pé
;
tur Ludvigsson
o
;
Kari Stefansson
b
;
Andreas Walter Kuss
c
;
Peristera Paschou
h
;
Danielle Cath
p
;
Pieter J. Hoekstra
q
;
Kirsten Mü
;
ller-Vahl
r
;
Manfred Stuhrmann
r
;
Asli Silahtaroglu
s
;
Rolph Pfundt
t
;
Zeynep Tü
;
mer
i
;
zeynep.tumer@regionh.dk" class="auth_mail" title="E-mail the corresponding author
关键词:
AADAC
;
Association study
;
CNV
;
Copy number variation
;
Gilles de la Tourette syndrome
;
Neuropsychiatric disorder
刊名:Biological Psychiatry
出版年:2016
3.
Etiological yield of SNP microarrays in idiopathic intellectual disability
作者:
G. Eda Utine
a
;
b
;
geutine@hacettepe.edu.tr" class="auth_mail
;
Gö
;
knur Halilo臒lu
a
;
c
;
Bilge Volkan-Salanc谋
a
;
b
;
Arda Ç
;
etinkaya
b
;
d
;
Pelin Ö
;
. Kiper
a
;
b
;
Yasemin Alanay
a
;
b
;
Dilek Akta艧
b
;
d
;
Banu Anlar
a
;
c
;
Meral Topç
;
u
a
;
c
;
Koray Boduro臒lu
a
;
b
;
Mehmet Alika艧ifo臒lu
b
;
d
关键词:
SNP microarray
;
Intellectual disability
;
NRXN1
;
FOXP2
;
UBE2A
;
Uniparental disomy
;
Subtelomeric rearrangements
刊名:European Journal of Paediatric Neurology
出版年:May 2014
4.
Autosomal dominant lateral temporal epilepsy (ADLTE): Absence of chromosomal rearrangements in LGI1 gene
作者:
Ida Manna
a
;
1
;
Laura Mumoli
b
;
1
;
Angelo Labate
b
;
c
;
Luigi Citrigno
a
;
Edoardo Ferlazzo
b
;
d
;
Umberto Aguglia
b
;
d
;
Aldo Quattrone
b
;
c
;
Antonio Gambardella
a
;
b
;
a.gambardella@unicz.it" class="auth_mail
关键词:
Autosomal dominant lateral temporal epilepsy
;
LGI1 gene
;
Mutation analysis
;
Gene rearrangement
;
Multiplex ligation-dependent probe amplification
刊名:Epilepsy Research
出版年:March, 2014
5.
The unexpected role of copy number variations in juvenile myoclonic epilepsy
作者:
Ingo Helbig
a
;
i.helbig@pedneuro.uni-kiel.de
;
Corinna Hartmann
a
;
Heather C. Mefford
b
关键词:
Epilepsy
;
Genetics
;
JME
;
Copy number variations
;
15q13.3
;
16p13.11
;
Microdeletion
刊名:Epilepsy & Behavior
出版年:2013
6.
High Frequency Of
Submicroscopic
Chromosomal
Deletions
in Patients with Idiopathic Congenital Eye Malformations
作者:
Irina Balikova
a
;
Thomy de Ravel
a
;
Carmen Ayuso
b
;
Bernard Thienpont
a
;
Ingele Casteels
c
;
Cristina Villaverde
b
;
Koenraad Devriendt
a
;
Jean-Pierre Fryns
a
;
Joris Robert Vermeesch
a
;
Joris.Vermeesch@uzleuven.be"" rel=""nofollow
[Author vitae]
刊名:American Journal of Ophthalmology
出版年:2011
7.
Monosomy and ring chromosome 13 in a thyroid nodular goiter¡ªdo we underestimate its relevance in benign thyroid lesions?
作者:
Wolfgang Sendt
a
;
Volkhard Rippe
b
;
Inga Flor
b
;
Norbert Drieschner
b
;
Jö
;
rn Bullerdiek
b
;
bullerd@uni-bremen.de
关键词:
Thyroid
;
nodular goiter
;
chromosome 13
;
ring chromosome
;
cytogenetics
刊名:Cancer Genetics
出版年:2012
8.
Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features
作者:
Sabrina Spengler
;
MS
1
;
sspengler@ukaachen.de
;
Matthias Begemann
;
PhD
1
;
Nadina Ortiz Brü
;
chle
;
DVM
1
;
Michael Baudis
;
Dr Med
2
;
Bernd Denecke
;
PhD
3
;
Peter Michael Kroisel
4
;
Barbara Oehl-Jaschkowitz
;
Dr Med
5
;
Bernd Schulze
;
Dr Med
6
;
Gisela Raabe-Meyer
;
Dr Med
6
;
Christiane Spaich
;
Dr Med
7
;
Peter Blü
;
mel
;
Dr Med
8
;
Anna Jauch
;
PhD
9
;
Ute Moog
;
Dr Med
9
;
Klaus Zerres
;
MD
1
;
Thomas Eggermann
;
PhD
1
关键词:
ADHD
;
Attention-deficit/hyperactivity disorder
;
CNV
;
Copy number variation
;
FISH
;
Fluorescence in situ hybridization
;
ICR1
;
Imprinting control region 1
;
IGF
;
Insulin-like growth factor
;
PCR
;
Polymerase chain reaction
;
RefSeq
;
Reference Sequence
;
SRS
;
Silv
刊名:The Journal of Pediatrics
出版年:2012
9.
Copy number variants on the X chromosome in women with primary ovarian insufficiency
作者:
Erik A.H. Knauff
;
Hylke M. Blauw
;
Peter L. Pearson
;
Klaas Kok
;
Cisca Wijmenga
;
Jan H. Veldink
;
Leonard H. van den Berg
;
Philippe Bouchard
;
Bart C.J.M. Fauser
;
Lude Franke
;
for the Dutch Primary Ovarian Insufficiency Consortium
关键词:
Copy number variation
;
premature ovarian failure
;
primary ovarian insufficiency
;
X chromosome
刊名:Fertility and Sterility
出版年:2011
10.
Characterization of a novel t(2;5;11) in a patient with concurrent AML and CLL: a case report and literature review
作者:
Rui Zhang
a
;
b
;
Young-Mi Kim
a
;
Xianglan Lu
a
;
Xianfu Wang
a
;
Hui Pang
a
;
Yan Li
b
;
Shibo Li
a
;
Ji-Yun Lee
a
;
jlee13@ouhsc.edu
关键词:
AML
;
CLL
;
array CGH
;
chromosome
;
FISH
刊名:Cancer Genetics
出版年:2011
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