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Wiley电子期刊(1)
SpringerLink电子期刊(82)
ProQuest学位论文(1)
Elsevier电子期刊(50)
在“
Elsevier电子期刊
”中,
命中:
50
条,耗时:小于0.01 秒
在所有数据库中总计命中:
134
条
1.
Genome-Wide Association Study Identifies African-Specific Susceptibility Loci in African Americans With Inflammatory Bowel Disease
作者:
Steven R. Brant
1
;
2
;
&lowast
;
;
David T. Okou
3
;
&lowast
;
;
Claire L. Simpson
4
;
5
;
&lowast
;
;
David J. Cutler
6
;
Talin Haritunians
7
;
Jonathan P. Bradfield
8
;
Pankaj Chopra
6
;
Jarod Prince
3
;
Ferdouse Begum
2
;
Archana Kumar
3
;
Chengrui Huang
2
;
Suresh Venkateswaran
3
;
Lisa W. Datta
1
;
Zhi Wei
8
;
Kelly Thomas
8
;
Lisa J. Herrinton
9
;
Jan-Micheal A. Klapproth
10
;
Antonio J. Quiros
11
;
Jenifer Seminerio
12
;
Zhenqiu Liu
7
;
Jonathan S. Alexander
13
;
Robert N. Baldassano
14
;
Sharon Dudley-Brown
15
;
Raymond K. Cross
16
;
Themistocles Dassopoulos
17
;
Lee A. Denson
18
;
Tanvi A. Dhere
19
;
Gerald W. Dryden
20
;
John S. Hanson
21
;
Jason K. Hou
22
;
Sunny Z. Hussain
23
;
Jeffrey S. Hyams
24
;
Kim L. Isaacs
25
;
Howard Kader
26
;
Michael D. Kappelman
27
;
Jeffry Katz
28
;
Richard Kellermayer
29
;
Barbara S. Kirschner
30
;
John F. Kuemmerle
31
;
John H. Kwon
32
;
Mark Lazarev
33
;
Ellen Li
34
;
David Mack
35
;
Peter Mannon
36
;
Dedrick E. Moulton
37
;
Rodney D. Newberry
38
;
Bankole O. Osuntokun
39
;
Ashish S. Patel
40
;
Shehzad A. Saeed
18
;
Stephan R. Targan
7
关键词:
SNP
;
Genetic Analysis
;
Risk Factor
;
Trans-Ethnic
刊名:Gastroenterology
出版年:2017
2.
In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2
unclassified
variants
in a population-based sample
作者:
Marta Rodrí
;
guez-Balada
a
;
1
;
Bà
;
rbara Roig
a
;
1
;
Lourdes Martorell
b
;
Mireia Melé
;
a
;
Mò
;
nica Salvat
a
;
Elisabet Vilella
b
;
Joan Borrà
;
s
a
;
Josep Gumà
;
a
;
jguma@grupsagessa.com
关键词:
BRCA1
;
BRCA2
;
variants
of unknown significance
;
cDNA
;
splicing
;
cancer genetic counseling
刊名:Cancer Genetics
出版年:2016
3.
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
作者:
Jeroen Breckpot
a
;
1
;
Marieke Vercruyssen
b
;
1
;
Eddy Weyts
c
;
Sean Vandevoort
c
;
Greet D'Haenens
c
;
Griet Van Buggenhout
a
;
Lore Leempoels
b
;
Elise Brischoux-Boucher
d
;
Lionel Van Maldergem
d
;
Alessandra Renieri
e
;
f
;
Maria Antonietta Mencarelli
f
;
Carla D'Angelo
g
;
Veronica Mericq
h
;
Mariette J. Hoffer
i
;
Maithé
;
Tauber
j
;
Catherine Molinas
j
;
molinas.c@chu-toulouse.fr" class="auth_mail" title="E-mail the corresponding author
;
Claudia Castiglioni
k
;
Nathalie Brison
a
;
Joris R. Vermeesch
a
;
Marina Danckaerts
b
;
Pascal Sienaert
b
;
Koenraad Devriendt
a
;
Annick Vogels
a
;
annick.vogels@uzleuven.be" class="auth_mail" title="E-mail the corresponding author
关键词:
Catatonia
;
Psychiatric disorder
;
SHANK3
;
14q11.2 duplication
;
SUPT16H
刊名:European Journal of Medical Genetics
出版年:2016
4.
Should diffuse bronchiectasis still be considered a CFTR-related disorder?
作者:
Anne Bergougnoux
a
;
b
;
Victoria Viart
a
;
b
;
Julie Miro
b
;
c
;
Sé
;
bastien Bommart
c
;
d
;
e
;
Nicolas Molinari
c
;
e
;
f
;
Marie des Georges
b
;
Mireille Claustres
b
;
c
;
Raphaë
;
l Chiron
g
;
Magali Taulan-Cadars
b
;
c
;
magali.taulan@inserm.fr" class="auth_mail" title="E-mail the corresponding author
关键词:
CFTR
;
cystic fibrosis transmembrane conductance regulator
;
CF
;
cystic fibrosis
;
CFTR-RD
;
CFTR-related disorder
;
DB
;
diffuse bronchiectasis
;
WT
;
wild-type
;
IQR
;
interquartile range
;
M
;
mild
;
UV
;
unclassified
variant
;
P
;
rare polymorphism
;
NNV
;
non-neutral variant
刊名:Journal of Cystic Fibrosis
出版年:2015
5.
PP01.2 - 2772: Whole exome sequencing in 41 cases of early-onset epileptic encephalopathy
作者:
A. Macaya
;
A. Marcé
;
-Grau
;
E. Cuenca-Leó
n ;
A. Felipe-Ruciá
n ;
F.J. Ló
;
pez-Pisó
n ;
M. Raspall-Chaure
刊名:European Journal of Paediatric Neurology
出版年:2015
6.
The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease
作者:
Holm H. Uhlig
1
;
2
;
holm.uhlig@ndm.ox.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Tobias Schwerd
1
;
Sibylle Koletzko
3
;
Neil Shah
4
;
5
;
Jochen Kammermeier
4
;
Abdul Elkadri
6
;
7
;
Jodie Ouahed
8
;
9
;
David C. Wilson
10
;
11
;
Simon P. Travis
1
;
Dan Turner
12
;
Christoph Klein
3
;
Scott B. Snapper
8
;
9
;
Aleixo M. Muise
6
;
7
;
for the COLORS in IBD Study Group
;
NEOPICS
关键词:
Inflammatory Bowel Disease
;
Crohn&rsquo
;
s Disease
;
Ulcerative Colitis
;
Unclassified
Colitis
;
Indeterminate Colitis
;
Immunodeficiency
;
Pediatrics
;
IBD
Unclassified
;
Genetics
;
Next-Generation Sequencing
;
Whole Exome Sequencing
刊名:Gastroenterology
出版年:2014
7.
Performance of in silico analysis in predicting the effect of non-synonymous
variants
in inherited steroid metabolic diseases
作者:
Angel O.K. Chan
;
cok436@ha.org.hk
关键词:
SIFT
;
sorting intolerant from tolerant
;
PolyPhen
;
polymorphism phenotyping
;
MSA
;
multiple sequence alignment
;
PON-P
;
pathogenic-or-not-pipeline
;
UV
;
unclassified
variants
;
PPV
;
positive predictive value
;
NPV
;
negative predictive value
刊名:Steroids
出版年:2013
8.
Detection of
variants
in SLC6A8 and functional analysis of
unclassified
missense
variants
作者:
Ofir T. Betsalel
a
;
Ana Pop
a
;
Efraim H. Rosenberg
b
;
Matilde Fernandez-Ojeda
a
;
Creatine Transporter Research
;
Group
1
;
Cornelis Jakobs
a
;
Gajja S. Salomons
a
;
g.salomons@vumc.nl
关键词:
SLC6A8
;
Creatine transporter
;
Missense
variants
;
LOVD
;
DHPLC
刊名:Molecular Genetics and Metabolism
出版年:2012
9.
Genetic susceptibility and genotype-phenotype association in 588 Danish children with inflammatory bowel disease
作者:
C. Jakobsen
a
;
Christian.jakobsen.03@regionh.dk" class="auth_mail
;
I. Cleynen
b
;
P.S. Andersen
c
;
S. Vermeire
d
;
P. Munkholm
e
;
A. Paerregaard
a
;
V. Wewer
a
关键词:
Crohn's disease
;
Ulcerative colitis
;
Genotype
;
Phenotype
;
Epidemiology
刊名:Journal of Crohn's and Colitis
出版年:1 July 2014
10.
BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: Novel mutations and
unclassified
variants
作者:
Amal Tazzite
a
;
1
;
Hassan Jouhadi
b
;
1
;
Sellama Nadifi
a
;
labgenmed@yahoo.fr
;
Paolo Aretini
c
;
Elisabetta Falaschi
c
;
Anita Collavoli
c
;
Abdellatif Benider
b
;
Maria Adelaide Caligo
c
关键词:
Breast cancer
;
BRCA1
;
BRCA2
;
Germline mutations
;
Morocco
刊名:Gynecologic Oncology
出版年:2012
1
2
3
4
5
6
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