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Wiley电子期刊(7)
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Elsevier电子期刊(151)
SpringerLink电子期刊(121)
NATURE电子期刊(4)
ACS电子期刊(4)
在“
Elsevier电子期刊
”中,
命中:
151
条,耗时:0.0339869 秒
在所有数据库中总计命中:
288
条
1.
Whole-Genome Sequencing in Healthy People
作者:
Noralane M. Lindor
;
MD
a
;
nlindor@mayo.edu
;
Stephen N. Thibodeau
;
PhD
b
;
Wylie Burke
;
MD
;
PhD
c
关键词:
ACMGG
;
American College
of
Medical Genetics and Genomics
;
EMR
;
electronic medical record
;
GWAS
;
genome-wide association study
;
HGP
;
Human Genome Project
;
SNP
;
single-nucleotide polymorphism
;
WES
;
whole-exome sequencing
;
WGS
;
whole-genome sequencing
;
VUS
;
variant
of
unknown
significance
刊名:Mayo Clinic Proceedings
出版年:2017
2.
Standards and Guidelines for the Interpretation and Reporting
of
Sequence
Variant
s in Cancer: A Joint Consensus Recommendation
of
the Association for Molecular Pathology, American Society
of
Clinical Oncology, and College
of
American Pathologists
作者:
Marilyn M. Li
&lowast
;
;
&dagger
;
;
lim5@email.chop.edu
;
Michael Datto
&lowast
;
;
&Dagger
;
;
Eric J. Duncavage
&lowast
;
;
§
;
;
Shashikant Kulkarni
&lowast
;
;
¶
;
;
Neal I. Lindeman
&lowast
;
;
‖
;
Somak Roy
&lowast
;
;
&lowast
;
&lowast
;
;
Apostolia M. Tsimberidou
&lowast
;
;
&dagger
;
&dagger
;
;
Cindy L. Vnencak-Jones
&lowast
;
;
&Dagger
;
&Dagger
;
;
Daynna J. Wolff
&lowast
;
;
§
;
§
;
;
Anas Younes
&lowast
;
;
¶
;
¶
;
;
Marina N. Nikiforova
&lowast
;
;
&lowast
;
&lowast
;
刊名:The Journal
of
Molecular Diagnostics
出版年:2017
3.
Genetic analysis in post-mortem samples with micro-ischemic alterations
作者:
Oscar Campuzano
a
;
b
;
1
;
Olallo Sanchez-Molero
a
;
1
;
Irene Mademont-Soler
a
;
Monica Coll
a
;
Catarina Allegue
a
;
Carles Ferrer-Costa
c
;
Jesus Mates
a
;
Alexandra Perez-Serra
a
;
Bernat del Olmo
a
;
Anna Iglesias
a
;
Georgia Sarquella-Brugada
d
;
Josep Brugada
d
;
Juan Carlos Borondo
e
;
Josep Castella
f
;
Jordi Medallo
f
;
Ramon Brugada
a
;
b
;
g
;
ramon@brugada.org
关键词:
Channelopathies
;
Genetics
;
Infarction
;
Myocardium
刊名:Forensic Science International
出版年:2017
4.
Functional Annotation
of
KCNQ1
Variant
s
of
Unknown
Significance
using Automated Electrophysiology
刊名:Biophysical Journal
出版年:2017
5.
In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified
variant
s 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
;
variant
s
of
unknown
significance
;
cDNA
;
splicing
;
cancer genetic counseling
刊名:Cancer Genetics
出版年:2016
6.
Routine use
of
gene panel testing in hereditary breast cancer should be performed with caution
作者:
Cedric van Marcke
a
;
b
;
cedric.vanmarcke@uclouvain.be
;
Anne De Leener
c
;
anne.deleener@uclouvain.be
;
Martine Berliè
;
re
d
;
martine.berliere@uclouvain.be
;
Miikka Vikkula
b
;
miikka.vikkula@uclouvain.be
;
Francois P. Duhoux
a
;
d
;
francois.duhoux@uclouvain.be
关键词:
Hereditary breast cancer
;
Gene panel testing
;
Personalized care
;
Variant
s
of
unknown
significance
刊名:Critical Reviews in Oncology/Hematology
出版年:2016
7.
DNA copy number
variant
s: 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
8.
Pathogenic germline MCM9
variant
s are rare in Australian Lynch-like syndrome patients
作者:
Qing Liu
a
;
Luke B. Hesson
a
;
Andrea C. Nunez
a
;
Deborah Packham
a
;
Nicholas J. Hawkins
b
;
c
;
Robyn L. Ward
a
;
d
;
r.ward@uq.edu.au
;
Mathew A. Sloane
a
;
m.sloane@unsw.edu.au
关键词:
Lynch syndrome
;
Lynch-like syndrome
;
DNA mismatch repair
;
MCM9
;
helicase
刊名:Cancer Genetics
出版年:2016
9.
Common
variant
s in ABCA7 and MS4A6A are associated with cortical and hippocampal atrophy
作者:
Leslie M. Ramirez
a
;
Naira Goukasian
b
;
Shai Porat
b
;
Kristy S. Hwang
c
;
Jennifer A. Eastman
d
;
Sona Hurtz
a
;
Benjamin Wang
b
;
Nouchee Vang
e
;
Renee Sears
f
;
Eric Klein
f
;
Giovanni Coppola
f
;
Liana G. Apostolova
b
;
g
;
h
;
i
;
lapostol@iu.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
AD risk genes
;
Alzheimer's disease
;
Neurodegeneration
;
Cortical atrophy
;
Hippocampal atrophy
;
Cortical thickness
刊名:Neurobiology
of
Aging
出版年:2016
10.
Genetic counseling dilemma in neuronal ceroid lip
of
uscinosis associated with
variant
s
of
unknown
significance
in whole exome sequencing: A case report
作者:
Emily C. Lisi
;
Allison Foley
;
Suma Shankar
刊名:Molecular Genetics and Metabolism
出版年:2016
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