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
Wiley电子期刊(2)
SpringerLink电子期刊(8)
NATURE电子期刊(19)
Elsevier电子期刊(28)
在“
Elsevier电子期刊
”中,
命中:
28
条,耗时:小于0.01 秒
在所有数据库中总计命中:
57
条
1.
Understanding Spatial Genome Organization: Methods and Insights
作者:
Vi
jay
Ramani
1
;
a
;
Jay
Shendure
1
;
5
;
b
;
Zhijun Duan
2
;
3
;
4
;
c
;
zjduan@uw.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
Chromatin
;
Chromosome
;
Epigenomics
;
4D nucleome
;
Hi-C
刊名:Genomics, Proteomics Bioinformatics
出版年:2016
2.
Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin
作者:
Matthew W. Snyder
1
;
3
;
Martin Kircher
1
;
3
;
Andrew J. Hill
1
;
Riza M. Daza
1
;
Jay
Shendure
1
;
2
;
shendure
@uw.edu" class="auth_mail" title="E-mail the corresponding author
刊名:Cell
出版年:2016
3.
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
作者:
Dr Ghayda M Mirzaa
;
MD
a
;
c
;
gmirzaa@uw.edu" class="auth_mail" title="E-mail the corresponding author
;
Valerio Conti
;
PhD
e
;
Andrew E Timms
;
PhD
d
;
Christopher D Smyser
;
MD
f
;
Sarah Ahmed
;
MD
c
;
Melissa Carter
;
MD
g
;
Sarah Barnett
;
MS
h
;
Robert B Hufnagel
;
MD
i
;
Amy Goldstein
;
MD
j
;
Yoko Narumi-Kishimoto
;
MD
k
;
Carissa Olds
;
MSc
c
;
Sarah Collins
;
MS
c
;
Kathreen Johnston
;
MD
l
;
Jean-Franç
;
ois Deleuze
;
PhD
m
;
Patrick Nitschké
;
PhD
n
;
Kathryn Friend
;
PhD
o
;
Catharine Harris
;
MD
h
;
Allison Goetsch
;
MS
p
;
Beth Martin
;
BS
b
;
Evan August Boyle
;
BS
q
;
Elena Parrini
;
MD
e
;
Davide Mei
;
MSLT
e
;
Lorenzo Tattini
;
PhD
e
;
Prof Anne Slavotinek
;
MBBS
r
;
Ed Blair
;
MRCP
s
;
Christopher Barnett
;
MBBS
t
;
u
;
Prof
Jay
Shendure
;
MD
b
;
Prof Jamel Chelly
;
MD
v
;
w
;
Prof William B Dobyns
;
MD
a
;
c
;
Prof Renzo Guerrini
;
MD
e
;
x
;
renzo.guerrini@meyer.it" class="auth_mail" title="E-mail the corresponding author
刊名:Lancet Neurology
出版年:2015
4.
Learning the Sequence Determinants of Alternative Splicing from Millions of Random Sequences
作者:
Alexander B. Rosenberg
1
;
Rupali P. Patwardhan
2
;
Jay
Shendure
2
;
Georg Seelig
1
;
3
;
gseelig@uw.edu" class="auth_mail" title="E-mail the corresponding author
刊名:Cell
出版年:2015
5.
A de novo convergence of autism genetics and molecular neuroscience
作者:
Niklas Krumm
;
Brian J. O鈥橰oak
;
Jay
Shendure
;
Evan E. Eichler
关键词:
autism genetics
;
autism spectrum disorder
;
copy number variant
;
exome sequencing
;
intellectual disability
;
single nucleotide variant
刊名:Trends in Neurosciences
出版年:February, 2014
6.
A Non-Active-Site SET Domain Surface Crucial for the Interaction of MLL1 and the RbBP5/Ash2L Heterodimer within MLL Family Core Complexes
作者:
Stephen A. Shinsky
1
;
Michael Hu
2
;
Valarie E. Vought
2
;
Sarah B. Ng
3
;
Michael J. Bamshad
3
;
4
;
Jay
Shendure
3
;
Michael S. Cosgrove
1
;
cosgrovm@upstate.edu" class="auth_mail
关键词:
MLL
;
mixed lineage leukemia
;
H3K4
;
histone H3 lysine 4
;
KS
;
Kabuki syndrome
;
SV-AUC
;
sedimentation velocity analytical ultracentrifugation
;
GST
;
glutathione S-transferase
;
MALDI
;
matrix-assisted laser desorption/ionization
;
TOF
;
time-of-flight
;
RAD
;
RbBP5/Ash2L/DPY-30
刊名:Journal of Molecular Biology
出版年:12 June 2014
7.
Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections
作者:
Dianna M. Milewicz
;
Ellen S. Regalado
;
Jay
Shendure
;
Deborah A. Nickerson
;
Dong-chuan Guo
刊名:Trends in Cardiovascular Medicine
出版年:February, 2014
8.
Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data
作者:
Zongxiao He
;
Brian聽J. O鈥橰oak
;
Joshua聽D. Smith
;
Gao Wang
;
Stanley Hooker
;
Regie聽Lyn聽P. Santos-Cortez
;
Biao Li
;
Mengyuan Kan
;
Nik Krumm
;
Deborah聽A. Nickerson
;
Jay
Shendure
;
Evan聽E. Eichler
;
Suzanne聽M. Leal
刊名:The American Journal of Human Genetics
出版年:2 January, 2014
9.
Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86
作者:
Atteeq聽U. Rehman
;
Regie聽Lyn聽P. Santos-Cortez
;
Robert聽J. Morell
;
Meghan聽C. Drummond
;
Taku Ito
;
Kwanghyuk Lee
;
Asma聽A. Khan
;
Muhammad聽Asim聽R. Basra
;
Naveed Wasif
;
Muhammad Ayub
;
Rana聽A. Ali
;
Syed聽I. Raza
;
University of Washington Center for Mendelian Genomics
;
Deborah聽A. Nickerson
;
Jay
Shendure
;
Michael Bamshad
;
Saima Riazuddin
;
Neil Billington
;
Shaheen聽N. Khan
;
Penelope聽L. Friedman
;
Andrew聽J. Griffith
;
et al.
刊名:The American Journal of Human Genetics
出版年:2 January, 2014
10.
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
作者:
Margaret J. McMillin
1
;
40
;
Anita E. Beck
1
;
2
;
40
;
Jessica X. Chong
1
;
Kathryn M. Shively
1
;
Kati J. Buckingham
1
;
Heidi I.S. Gildersleeve
1
;
Mariana I. Aracena
3
;
4
;
Arthur S. Aylsworth
5
;
Pierre Bitoun
6
;
John C. Carey
7
;
Carol L. Clericuzio
8
;
Yanick J. Crow
9
;
Cynthia J. Curry
10
;
Koenraad Devriendt
11
;
David B. Everman
12
;
Alan Fryer
13
;
Kate Gibson
14
;
Maria Luisa Giovannucci Uzielli
15
;
John M. Graham Jr.
16
;
Judith G. Hall
17
;
Jacqueline T. Hecht
18
;
Randall A. Heidenreich
8
;
Jane A. Hurst
19
;
Sarosh Irani
20
;
Ingrid P.C. Krapels
21
;
Jules G. Leroy
22
;
David Mowat
23
;
24
;
Gordon T. Plant
25
;
Stephen P. Robertson
26
;
Elizabeth K. Schorry
27
;
Richard H. Scott
19
;
Laurie H. Seaver
28
;
Elliott Sherr
29
;
Miranda Splitt
30
;
Helen Stewart
31
;
Constance Stumpel
21
;
Sehime G. Temel
32
;
33
;
34
;
David D. Weaver
35
;
Margo Whiteford
36
;
Marc S. Williams
37
;
Holly K. Tabor
2
;
38
;
Joshua D. Smith
39
;
Jay
Shendure
39
;
Deborah A. Nickerson
39
;
University of Washington Center for Mendelian Genomics
刊名:The American Journal of Human Genetics
出版年:1 May 2014
1
2
3
按检索点细分(28)
题名(1)
作者(27)
按出版年细分(28)
2027年及以后(2)
2016年(2)
2015年(2)
2013年(9)
2012年(3)
2010年(1)
2009年(1)
2007年(1)
2004年(1)
2003年(1)
2000年及以前(5)
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
.