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内部出版物
CNKI学位论文(2)
知网期刊论文(3)
在“
SpringerLink电子期刊
”中,
命中:
16
条,耗时:0.0149937 秒
在所有数据库中总计命中:
5
条
1.
Opportunities and challenges
of
whole-genome and -exome sequencing
作者:
Britt-Sabina Petersen
;
Broder Fredrich
;
Marc P. Hoeppner
;
David Ellinghaus…
关键词:
Whole
;
genome sequencing
;
WGS
;
Whole
;
exome sequencing
;
WES
;
Next
;
generation sequencing
;
NGS
;
Complex diseases
;
Inflammatory bowel diseases
;
Variant priorization
;
Variants
of
unknown
significance
(
VUS
)
刊名:BMC Genetics
出版年:2017
2.
Characterization
of
BRCA1
and
BRCA2
variants
found in a Norwegian breast or ovarian cancer cohort
作者:
Elisabeth Jarhelle
;
Hilde Monica Frostad Riise Stensland
;
Lovise Mæhle…
关键词:
BRCA1
;
BRCA2
;
Cancer
;
cDNA
;
analysis
;
Functional
;
assay
刊名:Familial Cancer
出版年:2017
3.
The RET E616Q Variant is a Gain
of
Function Mutation Present in a Family with Features
of
Multiple Endocrine Neoplasia 2A
作者:
William Grey
;
Rosaline Hulse
;
Anna Yakovleva
;
Dilyana Genkova…
关键词:
MEN2A
;
RET proto
;
oncogene
;
Hirschsprung
;
Phaeochromocytoma
C ;
cell hyperplasia
刊名:Endocrine Pathology
出版年:2017
4.
Variants
of
unknown
significance
on chromosomal microarray analysis: parental perspectives
作者:
Stephanie Jez
;
Megan Martin
;
Sarah South
;
Rena Vanzo…
关键词:
Chromosomal microarray analysis
;
Variant
of
unknown
significance
;
Autism spectrum disorder
;
Developmental delay
;
Intellectual disability
刊名:Journal
of
Community Genetics
出版年:2015
5.
Klassifizierung von ?
variants
of
unknown
significance
-(
VUS
) beim famili?ren Brust- und Eierstockkrebs
作者:
Dr. rer. nat. Jan Hauke
;
Christoph Engel
;
Barbara Wappenschmidt…
关键词:
VUS
;
Vorhersageprogramme
;
Klassifizierung
;
Mutation
;
Panelanalyse
;
VUS
;
Prediction tools
;
Classification
;
Mutation
;
Panel analysis
刊名:medizinische genetik
出版年:2015
6.
Not the End
of
the Odyssey: Parental Perceptions
of
Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders
作者:
Allyn McConkie Rosell
;
Loren D. M. Pena
;
Kelly Schoch…
关键词:
Whole exome sequencing
;
Genetic counseling
;
Empowerment
;
Parental perspectives
刊名:Journal
of
Genetic Counseling
出版年:2016
7.
Estimating risks for
variants
of
unknown
significance
according to their predicted pathogenicity classes with application to BRCA1
作者:
J. G. Dowty (1)
E. Lee (2)
R. McKean-Cowdin (2)
B. E. Henderson (2)
L. Bernstein (3)
G. Ursin (2)
J. L. Hopper (1) (4)
关键词:
Unclassified
variants
;
Variants
of
unknown
significance
;
BRCA1
;
Breast cancer
;
Ovarian cancer
刊名:Breast Cancer Research and Treatment
出版年:2014
8.
Breast Cancer Risk Gene Discovery: Opportunities and Challenges
作者:
Fabienne Lesueur
关键词:
Breast cancer
;
Genetic susceptibility
;
Germline mutation
;
Gene panel testing
;
Risk assessment
刊名:Current Genetic Medicine Reports
出版年:2015
9.
First genetic analysis
of
aneurysm genes in familial and sporadic abdominal aortic aneurysm
作者:
Koen M. van de Luijtgaarden
;
Daphne Heijsman
;
Alessandra Maugeri…
刊名:Human Genetics
出版年:2015
10.
Gene
variants
of
unknown
clinical
significance
in Lynch syndrome. An introduction for clinicians
作者:
Rolf H. Sijmons (1)
Marc S. Greenblatt (2)
Maurizio Genuardi (3) (4) (5)
关键词:
Lynch syndrome
;
HNPCC
;
Mismatch repair gene
;
Variants
;
Missense mutations
;
Pathogenicity
;
Classification
刊名:Familial Cancer
出版年:2013
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