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内部出版物
Wiley电子期刊(10)
SpringerLink电子期刊(252)
NATURE电子期刊(5)
Elsevier电子期刊(195)
在“
Elsevier电子期刊
”中,
命中:
195
条,耗时:小于0.01 秒
在所有数据库中总计命中:
462
条
1.
Introduction: Sub
chromosomal
abnormalities in preimplantation embryonic aneuploidy screening
作者:
Richard T. Scott Jr.
;
M.D.
;
rscott@rmanj.com
关键词:
Chromosomal
duplications
;
chromosomal
deletions
;
sub
chromosomal
defects
;
preimplantation genetic screening
;
embryonic mosaicism
刊名:Fertility and Sterility
出版年:2017
2.
Urological Findings in Beckwith-Wiedemann Syndrome With
Chromosomal
Duplications
of 11p15.5: Evaluation and Management
作者:
Carmen C. Tong
a
;
Kelly A. Duffy
b
;
David I. Chu
d
;
Dana A. Weiss
d
;
Arun K. Srinivasan
d
;
Douglas A. Canning
d
;
Jennifer M. Kalish
b
;
c
;
kalishj@email.chop.edu
刊名:Urology
出版年:2017
3.
Cumulative Impact of Polychlorinated Biphenyl and Large
Chromosomal
Duplications
on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes
作者:
Keith W. Dunaway
1
;
2
;
3
;
4
;
7
;
M. Saharul Islam
1
;
2
;
3
;
4
;
7
;
Rochelle L. Coulson
1
;
2
;
3
;
4
;
S. Jesse Lopez
1
;
2
;
3
;
4
;
Annie Vogel Ciernia
1
;
2
;
3
;
4
;
Roy G. Chu
1
;
2
;
3
;
4
;
Dag H. Yasui
1
;
2
;
3
;
4
;
Isaac N. Pessah
4
;
5
;
Paul Lott
2
;
Charles Mordaunt
1
;
2
;
3
;
4
;
Makiko Meguro-Horike
6
;
Shin-ichi Horike
6
;
Ian Korf
2
;
Janine M. LaSalle
1
;
2
;
3
;
4
;
8
;
jmlasalle@ucdavis.edu
关键词:
autism
;
copy number variants
;
persistent organic pollutants
;
epigenetic
;
DNA methylation
;
chromatin
;
gene x environment interaction
刊名:Cell Reports
出版年:2016
4.
Genome-wide analysis of WRKY family of transcription factors in common bean, Phaseolus vulgaris:
Chromosomal
localization, structure, evolution and expression divergence
作者:
Ning Wang
a
;
b
;
En-Hua Xia
a
;
b
;
Li-Zhi Gao
a
;
Lgao@mail.kib.ac.cn" class="auth_mail" title="E-mail the corresponding author
关键词:
TFs
;
transcription factors
;
RNA-seq
;
RNA sequencing
;
HMM
;
hidden Markov model
;
MW
;
molecular weight
;
pI
;
isoelectric point
;
aa
;
amino acid(s)
;
AtWRKY
;
WRKY transcription factors in Arabidopsis
;
PvWRKYs
;
WRKY transcription factors in Phaseolus vulgaris
;
P. vulgaris
;
Phaseolus vulgaris
;
NJ
;
neighbor-joining
;
DAP
;
day after planting
;
FPKM
;
expected number of fragments per kilobase of transcript sequence per millions base pairs sequenced
刊名:Plant Gene
出版年:2016
5.
Principles of genetic variations and molecular diseases: applications in hemophilia A
作者:
N. Lannoy
a
;
b
;
nlannoy@dmsnet.be" class="auth_mail" title="E-mail the corresponding author
Author Vitae
;
C. Hermans
a
Author Vitae
关键词:
Hemophilia A
;
Gene targeting
;
F8 gene mutations
;
Mutation analysis
;
CNV
;
Inversion
;
Molecular Biology methods
刊名:Critical Reviews in Oncology and Hematology
出版年:2016
6.
The genetics of nonsyndromic bilateral Duane retraction syndrome
作者:
Khaled K. Abu-Amero
;
PhD
a
;
b
;
abuamero@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Arif O. Khan
;
MD
c
;
Darren T. Oystreck
;
MMedSci
d
;
Altaf A. Kondkar
;
PhD
a
;
Thomas M. Bosley
;
MD
a
刊名:Journal of American Association for Pediatric Ophthalmology and Strabismus
出版年:2016
7.
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
8.
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
9.
Confirmation of
chromosomal
microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features
作者:
Agatino Battaglia
;
Viola Doccini
;
Laura Bernardini
;
Antonio Novelli
;
Sara Loddo
;
Anna Capalbo
;
Tiziana Filippi
;
John C. Carey
关键词:
Chromosomal
microarray (CMA)
;
Array-CGH
;
Developmental delay
;
Intellectual disability
;
Neurodevelopmental disorders
;
Autism spectrum disorders
;
Dysmorphic features
刊名:European Journal of Paediatric Neurology
出版年:November, 2013
10.
Two Y chromosomes with duplication of the distal long arm including the entire AZFc region
作者:
Hui-Kuo Hsu
;
Mei-Tsz Su
;
Ming Chen
;
Pauline Yen
;
Pao-Lin Kuo
关键词:
AZF
;
azoospermia factor
;
aCGH
;
array-based comparative genomic hybridization
;
IVF&ndash
;
ET
;
in vitro fertilization&ndash
;
embryo transfer
;
PAR2
;
pseudoautosomal region 2
刊名:Gene
出版年:25 February, 2014
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