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
Springer电子图书(1)
CNKI会议论文(1)
CNKI学位论文(1112)
知网期刊论文(677)
在“
Elsevier电子期刊
”中,
命中:
2,581
条,耗时:0.0109963 秒
在所有数据库中总计命中:
1,791
条
1.
Mutations
in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
作者:
Francesca Mattioli
1
;
2
;
3
;
4
;
5
;
Elise Schaefer
6
;
Alex Magee
7
;
Paul Mark
8
;
Grazia M. Mancini
9
;
Klaus Dieterich
10
;
Gretchen Von Allmen
11
;
Marielle Alders
12
;
Charles Coutton
13
;
Marjon van Slegtenhorst
9
;
Gaë
;
lle Vieville
13
;
Mark Engelen
12
;
Jan Maarten Cobben
12
;
Jane Juusola
14
;
Aurora Pujol
15
;
16
;
17
;
Jean-Louis Mandel
1
;
2
;
3
;
4
;
5
;
18
;
19
;
jlmandel@igbmc.fr
;
Amé
;
lie Piton
1
;
2
;
3
;
4
;
18
;
piton@igbmc.fr
刊名:The American Journal of Human Genetics
出版年:2017
2.
Loss-of-Function
Mutations
in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease
作者:
Dong-chuan Guo
1
;
13
;
Xue-Yan Duan
1
;
13
;
Ellen S. Regalado
1
;
Lauren Mellor-Crummey
1
;
Callie S. Kwartler
1
;
Dong Kim
2
;
Kenneth Lieberman
3
;
Bert B.A. de Vries
4
;
Rolph Pfundt
4
;
Albert Schinzel
5
;
Dieter Kotzot
6
;
Xuetong Shen
7
;
Min-Lee Yang
8
;
University of Washington Center for Mendelian Genomics
刊名:The American Journal of Human Genetics
出版年:2017
3.
Mutational Analysis of Recurrent Meningioma Progressing From Atypical to Rhabdoid Subtype
作者:
Mateusz Bujko
1
;
mbujko@coi.waw.pl
;
Marcin M. Machnicki
4
;
5
;
Emilia Grecka
1
;
Nataliia Rusetska
1
;
Ewa Matyja
7
;
Paulina Kober
1
;
Tomasz Mandat
2
;
Małgorzata Rydzanicz
6
;
Rafał Płoski
6
;
Romuald Krajewski
3
;
Wieslaw Bonicki
2
;
Tomasz Stokłosa
4
;
Janusz A. Siedlecki
1
关键词:
Anaplastic
;
Atypical
;
Meningioma
;
Progression
;
Rhabdoid
;
Somatic mutation
刊名:World Neurosurgery
出版年:2017
4.
Characterization of founder viruses in very early SIV rectal transmission
作者:
Zhe Yuan
a
;
Fangrui Ma
a
;
Andrew J. Demers
a
;
Dong Wang
b
;
Jianqing Xu
c
;
Mark G. Lewis
d
;
Qingsheng Li
a
;
qli@unl.edu
关键词:
Very early virological events
;
Rectal transmission
;
Genetic bottleneck
;
Founder virus signature
;
Tissue compartmentalization
;
Defective variants
刊名:Virology
出版年:2017
5.
Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm
作者:
Anne Marie Jelsig
a
;
anne.marie.jelsig@rsyd.dk
;
Zsolt Urban
b
;
Vishwanathan Hucthagowder
c
;
Henrik Nissen
d
;
Lilian Bomme Ousager
a
关键词:
ELN
;
Supravalvular aortic stenosis
;
Intracranial aneurysm
;
Sudden death
刊名:European Journal of Medical Genetics
出版年:2017
6.
Identification and characterization of two novel
mutations
in the LPL gene causing type I hyperlipoproteinemia
作者:
Piero Pingitore
;
PhD
a
;
Saverio Massimo Lepore
;
PhD
b
;
Carlo Pirazzi
;
MD
;
PhD
a
;
c
;
Rosellina Margherita Mancina
;
PhD
a
;
Benedetta Maria Motta
;
PhD
a
;
Luca Valenti
;
MD
d
;
e
;
Knut Erik Berge
;
MD
;
PhD
f
;
Kjetil Retterstø
l ;
MD
;
PhD
g
;
h
;
Trond P. Leren
;
MD
;
PhD
f
;
Olov Wiklund
;
MD
;
PhD
a
;
c
;
1
;
Stefano Romeo
;
MD
;
PhD
a
;
b
;
c
;
1
;
stefano.romeo@wlab.gu.se" class="auth_mail" title="E-mail the corresponding author
关键词:
Type 1 hyperlipoproteinemia
;
Hypertriglyceridemia
;
Missense and
frameshift
mutations
;
Familial lipoprotein lipase deficiency (FLD)
;
Hyperchylomicronemia
刊名:Journal of Clinical Lipidology
出版年:2016
7.
Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1
frameshift
mutation
作者:
Yunyun Wang
a
;
Shu Chen
b
;
Rongshuai Wang
a
;
Sizhe Huang
a
;
Mingzhen Yang
a
;
Liang Liu
a
;
c
;
Qian Liu
a
;
caixe_liu0222@tom.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Marfan syndrome
;
Frameshift
mutation
;
FBN1
;
Autopsy
刊名:Forensic Science International
出版年:2016
8.
A novel
frameshift
mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia
作者:
Shiroh Miura
a
;
shiroh46@med.kurume-u.ac.jp" class="auth_mail" title="E-mail the corresponding author
;
Takuya Morikawa
b
;
Ryuta Fujioka
c
;
Kengo Kosaka
b
;
Kohei Yamada
b
;
Gohsuke Hattori
d
;
Manabu Motomura
e
;
Takayuki Taniwaki
a
;
Hiroki Shibata
b
关键词:
Spastic paraplegia 28 (SPG28)
;
Autosomal recessive
;
DDHD1
;
Frameshift
;
Stop gain
;
Deletion
刊名:European Journal of Medical Genetics
出版年:2016
9.
Novel RAB3GAP1 compound heterozygous
mutations
in Japanese siblings with Warburg Micro syndrome
作者:
Miki Asahina
a
;
miki.a@hama-med.ac.jp" class="auth_mail" title="E-mail the corresponding author
;
Yusaku Endoh
b
;
Tomoko Matsubayashi
a
;
Tokiko Fukuda
a
;
Tsutomu Ogata
a
关键词:
Warburg Micro syndrome
;
RAB3GAP1
;
Mutation
刊名:Brain and Development
出版年:2016
10.
Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous
mutations
in the transcription preinitiation mediator complex subunit 17 (MED17)
作者:
Shinichi Hirabayashi
a
;
shirarin@naganoch.gr.jp" class="auth_mail" title="E-mail the corresponding author
;
Hirotomo Saitsu
b
;
Naomichi Matsumoto
b
关键词:
Whole exome sequencing
;
Mediator complex subunit 17
;
Compound heterozygous mutation
;
Choreiform movement
;
Nystagmus
刊名:Brain and Development
出版年:2016
1
2
3
4
5
6
7
8
9
按检索点细分(2581)
题名(50)
关键词(11)
文摘(2536)
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
.