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Elsevier电子期刊(4)
在“
Elsevier电子期刊
”中,
命中:
4
条,耗时:小于0.01 秒
在所有数据库中总计命中:
4
条
1.
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
2.
Exome Sequencing Implicates an Increased Burden of Rare Potassium Channel Variants in the Risk of Drug-Induced Long QT Interval Syndrome
作者:
Peter Weeke
;
MD
&lowast
;
;
&dagger
;
;
Jonathan D. Mosley
;
MD
;
PhD
&lowast
;
;
David Hanna
;
BS
&Dagger
;
;
Jessica T. Delaney
;
MD
&lowast
;
;
Christian Shaffer
;
BS
&lowast
;
;
Quinn S. Wells
;
MD
&lowast
;
;
Sara Van Driest
;
MD
;
PhD
§
;
;
Jason H. Karnes
;
PharmD
;
PhD
&lowast
;
;
Christie Ingram
;
BS
&lowast
;
;
Yan Guo
;
PhD
||
;
Yu Shyr
;
PhD
||
;
Kris Norris
;
RN
&lowast
;
;
Prince J. Kannankeril
;
MD
§
;
;
Andrea H. Ramirez
;
MD
&lowast
;
;
Joshua D. Smith
;
BS
&Dagger
;
;
Elaine R. Mardis
;
PhD
¶
;
;
Deborah
Nickerson
;
PhD
&Dagger
;
;
Alfred L. George Jr.
;
MD
#
;
Dan M. Roden
;
MD
#
;
dan.roden@vanderbilt.edu" class="auth_mail
关键词:
adverse drug event
;
exome
;
genetics
;
long QT interval syndrome
;
torsade des pointes
刊名:Journal of the American College of Cardiology
出版年:15 April, 2014
3.
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
4.
Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia
作者:
Elisabeth
聽
A. Rosenthal
;
Jane Ranchalis
;
David
聽
R. Crosslin
;
Amber Burt
;
John
聽
D. Brunzell
;
Arno
聽
G. Motulsky
;
Deborah聽
A.
Nickerson
;
NHLBI GO Exome Sequencing Project
;
Ellen
聽
M. Wijsman
;
Gail
聽
P. Jarvik
刊名:The American Journal of Human Genetics
出版年:5 December, 2013
1
按检索点细分(4)
作者(3)
按出版年细分(4)
2027年及以后(1)
2000年及以前(3)
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