设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
CNKI学位论文(935)
CNKI期刊论文0611(1)
知网期刊论文(558)
在“
SpringerLink电子期刊
”中,
命中:
652
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1,494
条
1.
In silico analysis of novel
mutation
s in maple syrup urine disease patients from Iran
作者:
Maryam Abiri
;
Razieh Karamzadeh
;
Marziyeh Mojbafan…
关键词:
MSUD
;
BCKDHB gene
;
Iran
;
Mutation
analysis
刊名:Metabolic Brain Disease
出版年:2017
2.
Assessment of an
APOBEC3B
truncating
mutation
, c.783delG, in patients with breast cancer
作者:
Hoda Radmanesh
;
Tessa Spethmann
;
Julia Enßen…
关键词:
Breast carcinoma
;
Genetic susceptibility
;
DNA editing
;
Founder
mutation
刊名:Breast Cancer Research and Treatment
出版年:2017
3.
Origin of a divergent mtDNA lineage of a freshwater snail species,
Radix balthica
, in Iceland: cryptic glacial refugia or a postglacial
founder
event?
作者:
Ivan N. Bolotov
;
Olga V. Aksenova
;
Yulia V. Bespalaya
;
Mikhail Y. Gofarov…
关键词:
Island biogeography
;
Elevated
mutation
rate
;
Postglacial environment
;
Mitochondrial DNA
;
Lymnaeidae
;
North Atlantic islands
;
Approximate Bayesian computation
刊名:Hydrobiologia
出版年:2017
4.
A common variant in
CLDN14
causes precipitous, prelingual sensorineural hearing loss in multiple families due to
founder
effect
作者:
Justin A. Pater
;
Tammy Benteau
;
Anne Griffin
;
Cindy Penney…
刊名:Human Genetics
出版年:2017
5.
BRCA1/BRCA2
founder
mutation
s and cancer risks: impact in the western Danish population
作者:
Henriette Roed Nielsen
;
Mef Nilbert
;
Janne Petersen
;
Steen Ladelund…
关键词:
Cancer risk
;
Cumulative incidence
;
Founder
mutation
;
Hereditary cancer
刊名:Familial Cancer
出版年:2016
6.
Community attitudes towards a Jewish community
BRCA1/2
testing program
作者:
Nicole Cousens
;
Rajneesh Kaur
;
Bettina Meiser
;
Lesley Andrews
关键词:
BRCA1/2
;
Jewish
;
Population screening
;
Breast cancer
;
Ovarian cancer
;
Attitudes
刊名:Familial Cancer
出版年:2017
7.
Potential new mechanisms of pro-arrhythmia in arrhythmogenic cardiomyopathy: focus on calcium sensitive pathways
作者:
C. J. M. van Opbergen
;
M. Delmar
;
T. A. B. van Veen
关键词:
Arrhythmogenic cardiomyopathy
;
Calcium
;
Arrhythmia
;
CaMKII
;
Phospholamban
刊名:Netherlands Heart Journal
出版年:2017
8.
Cardiovascular magnetic resonance of mitral valve length in hypertrophic cardiomyopathy
作者:
Mika Tarkiainen
;
Petri Sipola
;
Mikko Jalanko…
关键词:
Cardiomyopathy
;
Hypertrophic
;
Mitral valve
;
Cardiovascular magnetic resonance
刊名:Journal of Cardiovascular Magnetic Resonance
出版年:2017
9.
Clinical and molecular manifestation of fifteen 17OHD patients: a novel
mutation
and a
founder
effect
作者:
Bing Han
;
Liqiong Xue
;
Mengxia Fan
;
Shuangxia Zhao
;
Wei Liu
;
Hui Zhu…
关键词:
17
;
hydroxylase deficiency
;
Mutation
;
Founder
effect
刊名:Endocrine
出版年:2016
10.
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract
作者:
Nisha Patel
;
Deepti Anand
;
Dorota Monies
;
Sateesh Maddirevula…
刊名:Human Genetics
出版年:2017
1
2
3
4
5
6
7
8
9
按检索点细分(652)
题名(148)
关键词(110)
文摘(575)
按出版年细分(652)
2017年(9)
2016年(22)
2015年(27)
2014年(33)
2013年(51)
2012年(44)
2011年(27)
2010年(47)
2009年(44)
2008年(47)
2007年(46)
2006年(46)
2005年(60)
2004年(30)
2003年(24)
2002年(28)
2001年(19)
2000年(22)
2000年及以前(26)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.