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Wiley电子期刊(11)
ProQuest学位论文(1)
Elsevier电子期刊(147)
SpringerLink电子期刊(166)
NATURE电子期刊(3)
在“
Elsevier电子期刊
”中,
命中:
147
条,耗时:0.0699693 秒
在所有数据库中总计命中:
328
条
1.
Copy
number
variants
and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer
作者:
Monica Dalva
a
;
b
;
c
;
Khadija El Jellas
a
;
c
;
d
;
Solrun J. Steine
c
;
Bente B. Johansson
a
;
b
;
Monika Ringdal
a
;
b
;
Janniche Torsvik
a
;
Heike Immervoll
d
;
Dag Hoem
e
;
Felix Laemmerhirt
f
;
Peter Simon
f
;
Markus M. Lerch
f
;
Stefan Johansson
a
;
b
;
På
;
l R. Njø
;
lstad
a
;
g
;
Frank U. Weiss
f
;
Karianne Fjeld
a
;
b
;
1
;
karianne.fjeld@uib.no
;
Anders Molven
a
;
c
;
d
;
1
关键词:
Allele frequency
;
Carboxyl-ester lipase
;
Copy
number
variation
;
Genotyping
;
Pancreatic cancer
;
Variable
number
of tandem repeats
刊名:Pancreatology
出版年:2017
2.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
作者:
Asbjø
;
rg Stray-Pedersen
;
MD
;
PhD
a
;
b
;
c
;
d
;
e
;
&lowast
;
;
astraype@ous-hf.no
;
Hanne Sø
;
rmo Sorte
;
MS
f
;
g
;
&lowast
;
;
Pubudu Samarakoon
;
MS
f
;
g
;
Tomasz Gambin
;
PhD
a
;
h
;
Ivan K. Chinn
;
MD
b
;
c
;
i
;
Zeynep H. Coban Akdemir
;
PhD
a
;
Hans Christian Erichsen
;
MD
;
PhD
e
;
Lisa R. Forbes
;
MD
b
;
c
;
i
;
Shen Gu
;
PhD
a
;
Bo Yuan
;
PhD
a
;
j
;
Shalini N. Jhangiani
;
MS
a
;
j
;
k
;
Donna M. Muzny
;
MS
a
;
j
;
k
;
Olaug Kristin Rø
;
dningen
;
PhD
f
;
Ying Sheng
;
PhD
f
;
Sarah K. Nicholas
;
MD
;
PhD
b
;
c
;
i
;
Lenora M. Noroski
;
MD
;
MPH
c
;
i
;
Filiz O. Seeborg
;
MD
;
MPH
c
;
i
;
Carla M. Davis
;
MD
c
;
i
;
Debra L. Canter
;
MS
c
;
i
;
Emily M. Mace
;
PhD
b
;
c
;
Timothy J. Vece
;
MD
i
;
Carl E. Allen
;
MD
;
PhD
i
;
l
;
m
;
Harshal A. Abhyankar
;
MS
i
;
l
;
m
;
Philip M. Boone
;
MD
;
PhD
a
;
j
;
Christine R. Beck
;
PhD
a
;
j
;
Wojciech Wiszniewski
;
MD
;
PhD
a
;
j
;
Bø
;
rre Fevang
;
MD
;
PhD
g
;
n
;
På
;
l Aukrust
;
MD
;
PhD
g
;
n
;
Geir E. Tjø
;
nnfjord
;
MD
;
PhD
g
;
o
;
Tobias Gedde-Dahl
;
MD
;
PhD
o
;
Henrik Hjorth-Hansen
;
MD
;
PhD
p
;
q
;
Ingunn Dybedal
;
MD
;
PhD
o
;
Ingvild Nordø
y ;
MD
;
PhD
g
;
n
;
Silje F. Jø
;
rgensen
;
MD
n
;
Tore G. Abrahamsen
;
MD
;
PhD
e
;
g
;
Torstein Ø
;
verland
;
MD
e
;
Anne Grete Bechensteen
;
MD
;
PhD
e
;
Vegard Skogen
;
MD
;
PhD
r
;
Liv T.N. Osnes
;
MD
;
PhD
s
;
Mari Ann Kulseth
;
PhD
f
;
Trine E. Prescott
;
MD
f
;
Cecilie F. Rustad
;
MD
f
;
Ketil R. Heimdal
;
MD
;
PhD
f
;
John W. Belmont
;
MD
;
PhD
j
;
Nicholas L. Rider
;
DO
b
;
c
;
i
;
Javier Chinen
;
MD
;
PhD
c
;
i
;
Tram N. Cao
;
MS
b
;
c
;
i
;
Eric A. Smith
;
BSc
t
;
Maria Soledad Caldirola
;
BSc
u
;
Liliana Bezrodnik
;
MD
u
关键词:
Primary immunodeficiency disease
;
whole-exome sequencing
;
copy
number
variants
刊名:Journal of Allergy and Clinical Immunology
出版年:2017
3.
Genetic markers associated with dihydroartemisinin-piperaquine failure in Plasmodium falciparum malaria in Cambodia: a genotype-phenotype association study
作者:
Dr Roberto Amato
;
PhD
a
;
b
;
ra4@sanger.ac.uk
;
Pharath Lim
;
MD
c
;
d
;
Olivo Miotto
;
PhD
a
;
b
;
e
;
Chanaki Amaratunga
;
PhD
c
;
Dalin Dek
;
MSc
d
;
Richard D Pearson
;
PhD
a
;
b
;
Jacob Almagro-Garcia
;
MSc
a
;
b
;
Aaron T Neal
;
PhD
c
;
Sokunthea Sreng
d
;
Seila Suon
;
MD
d
;
Eleanor Drury
;
BSc[Hons]
a
;
Dushyanth Jyothi
;
MPhil
a
;
Jim Stalker
;
MA
a
;
Dominic P Kwiatkowski
;
FRCP
a
;
b
;
Dr Rick M Fairhurst
;
MD
c
;
rfairhurst@niaid.nih.gov
刊名:The Lancet Infectious Diseases
出版年:2017
4.
Clinical validation of a noninvasive prenatal test for genomewide detection of fetal
copy
number
variants
作者:
Roy B. Lefkowitz
;
PhD
a
;
John A. Tynan
;
PhD
a
;
Tong Liu
;
PhD
a
;
Yijin Wu
;
PhD
a
;
Amin R. Mazloom
;
PhD
a
;
Eyad Almasri
;
MS
a
;
Grant Hogg
;
MS
a
;
Vach Angkachatchai
;
PhD
a
;
Chen Zhao
;
PhD
a
;
Daniel S. Grosu
;
MD
b
;
Graham McLennan
;
MS
b
;
Mathias Ehrich
;
MD
b
;
mehrich@sequenom.com" class="auth_mail" title="E-mail the corresponding author
关键词:
cell-free DNA
;
chromosomal
copy
number
variant
;
genomewide
;
microdeletions
;
noninvasive prenatal testing
;
subchromosomal
copy
number
variant
刊名:American Journal of Obstetrics and Gynecology
出版年:2016
5.
Copy
number
variants
associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients
作者:
Amy L. Masson
a
;
b
;
Bente A. Talseth-Palmer
a
;
b
;
Tiffany-Jane Evans
a
;
b
;
Patrick McElduff
c
;
d
;
Allan D. Spigelman
e
;
f
;
g
;
Garry N. Hannan
h
;
Rodney J. Scott
a
;
b
;
i
;
Rodney.Scott@newcastle.edu.au" class="auth_mail" title="E-mail the corresponding author
关键词:
ALL
;
acute lymphoblastic leukaemia
;
BH
;
Bengamini and Hochberg
;
CHAS
;
Chromosome Analysis Suite
;
CN
;
copy
number
;
CNV
;
copy
number
variation
;
COSMIC
;
Catalogue of Somatic Mutations in Cancer
;
CRC
;
colorectal cancer
;
DGV
;
Database of genomic
variants
;
DNA
;
deoxyribose nucleic acid
;
FAP
;
familial adenomatous polyposis
;
HMDD
;
human microRNA disease database
;
Kb
;
kilobase
;
KEGG
;
Kyoto Encyclopaedia of Genes and Genomes
;
lncRNA
;
link RNA
;
LOH
;
loss of heterozygosity
;
mapd
;
median absolute pairwise di
刊名:Meta Gene
出版年:2016
6.
Copy
number
variants
calling for single cell sequencing data by multi-constrained optimization
作者:
Bo Xu
;
Hongmin Cai
;
hmcai@scut.edu.cn" class="auth_mail" title="E-mail the corresponding author
;
Changsheng Zhang
;
Xi Yang
;
Guoqiang Han
关键词:
Copy
number
variants
;
Read depth
;
Sparsity
;
Poisson distribution
;
Total variation
刊名:Computational Biology and Chemistry
出版年:2016
7.
The identification of
copy
number
variation of CD209 (DCSIGN) gene among dengue patients from peninsular Malaysia
作者:
Rafidah Hanim Shueb
a
;
hanimshueb@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Siti Khadijah Jusoh
a
;
Zuraihan Zakaria
b
;
Umi Shakina Haridan
b
;
Benedict Lim Heng Sim
c
;
Masliza Zaid
c
;
Nazri Mustaffa
d
;
Mahiran Mustafa
e
;
Nik Khairulddin Nik 'Yusoff
f
;
Christopher Kok Chong Lee
c
;
Sazaly AbuBakar
g
;
h
;
Boon-Peng Hoh
b
;
i
关键词:
Copy
number
variation
;
Dengue fever
;
Dengue hemorrhagic fever
;
CD209
;
qPCR
刊名:Meta Gene
出版年:2016
8.
DNA
copy
number
variants
: A potentially useful predictor of early onset renal failure in boys with posterior urethral valves
作者:
A. Faure
a
;
alice.faure@ap-hm.fr" class="auth_mail" title="E-mail the corresponding author
;
A. Bouty
a
;
G. Caruana
b
;
L. Williams
c
;
T. Burgess
c
;
d
;
M.N. Wong
b
;
P.A. James
c
;
M. O'Brien
a
;
A. Walker
e
;
J.F. Bertram
b
;
Y. Heloury
a
关键词:
Posterior urethral valves
;
Boys
;
Copy
number
variant
;
Nadir creatinine
;
Chronic kidney disease
刊名:Journal of Pediatric Urology
出版年:2016
9.
Phenotypic Association Analyses With
Copy
Number
Variation in Recurrent Depressive Disorder
作者:
James J.H. Rucker
a
;
e
;
james.rucker@kcl.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Katherine E. Tansey
a
;
c
;
Margarita Rivera
a
;
p
;
Dalila Pinto
b
;
q
;
Sarah Cohen-Woods
a
;
Rudolf Uher
a
;
h
;
Katherine J. Aitchison
a
;
n
;
Nick Craddock
c
;
Michael J. Owen
c
;
Lisa Jones
o
;
Ian Jones
c
;
Ania Korszun
f
;
Michael R. Barnes
d
;
Martin Preisig
g
;
Ole Mors
m
;
Wolfgang Maier
i
;
John Rice
j
;
Marcella Rietschel
k
;
Florian Holsboer
l
;
Anne E. Farmer
a
;
e
;
Ian W. Craig
a
;
Stephen W. Scherer
b
;
r
;
Peter McGuffin
a
;
e
;
Gerome Breen
a
;
e
关键词:
Affective disorders
;
Copy
number
variation
;
Depression
;
Genetics
;
Phenotypes
刊名:Biological Psychiatry
出版年:2016
10.
High-resolution SNP genotyping platform identified recurrent and novel
CNVs
in autism multiplex families
作者:
Laila Y. AlAyadhi
a
;
ayadh2@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Jamil A. Hashmi
b
;
hashmi.ja@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Muhammad Iqbal
c
;
saadhafsa@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Alia M. Albalawi
b
;
a.albalawi2277@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Mohammad I. Samman
b
;
d
;
drmsamman@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Nadra E. Elamin
a
;
nadraelyass@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Shahid Bashir
a
;
e
;
sbashir10@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Sulman Basit
b
;
sbasit.phd@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
ACRD
;
autism chromosome rearrangement database
;
AutDB
;
autism database
;
CNVs
;
copy
number
variants
;
DGVs
;
database of genomic
variants
;
GABA
;
gamma-aminobutyric acid
;
qPCR
;
quantitative real-time PCR
;
SNPs
;
single nucleotide polymorphisms
刊名:Neuroscience
出版年:2016
1
2
3
4
5
6
7
8
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