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Wiley电子期刊(7)
SpringerLink电子期刊(1)
NATURE电子期刊(7)
Elsevier电子期刊(36)
在“
Elsevier电子期刊
”中,
命中:
36
条,耗时:0.0229867 秒
在所有数据库中总计命中:
51
条
1.
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
2.
Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
作者:
Hudson聽H. Freeze
;
Jessica聽X. Chong
;
Michael
聽J.
Bamshad
;
Bobby聽G. Ng
刊名:The American Journal of Human Genetics
出版年:6 February, 2014
3.
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
4.
Differences in Activation and Relaxation Kinetics of Human Fetal Skeletal and Cardiac Myofibrils
作者:
Alice Ward Racca
;
Anita E. Beck
;
Michael
J.
Bamshad
;
Michael
Regnier
刊名:Biophysical Journal
出版年:28 January, 2014
5.
Prolonged Relaxation Kinetics in Distal Arthrogryposis Skeletal Muscle Myofibrils with a MYH3 R672C Mutation
作者:
Alice Ward Racca
;
Anita E. Beck
;
Michael
J.
Bamshad
;
Michael
Regnier
刊名:Biophysical Journal
出版年:28 January, 2014
6.
Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
作者:
Michael
R. Knowles
1
;
knowles@med.unc.edu
;
Margaret W. Leigh
2
;
Lawrence E. Ostrowski
1
;
Lu Huang
1
;
Johnny L. Carson
2
;
Milan J. Hazucha
1
;
Weining Yin
1
;
Jonathan S. Berg
1
;
3
;
Stephanie D. Davis
2
;
13
;
Sharon D. Dell
4
;
Thomas W. Ferkol
5
;
Margaret Rosenfeld
6
;
Scott D. Sagel
7
;
Carlos E. Milla
8
;
Kenneth N. Olivier
9
;
Emily H. Turner
10
;
Alexandra P. Lewis
10
;
Michael
J.
Bamshad
10
;
11
;
Deborah A. Nickerson
10
;
Jay Shendure
10
;
Maimoona A. Zariwala
12
;
zariwala@med.unc.edu
;
the Genetic Disorders of Mucociliary Clearance Consortium
刊名:The American Journal of Human Genetics
出版年:2013
7.
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
作者:
Alexander G. Marneros
1
;
18
;
Anita E. Beck
2
;
18
;
Emily H. Turner
3
;
18
;
Margaret J. McMillin
2
;
Matthew J. Edwards
4
;
Michael
Field
5
;
Nara Lygia de Macena Sobreira
6
;
Ana Beatriz A. Perez
7
;
Jose A.R. Fortes
8
;
Anne K. Lampe
9
;
Maria Luisa Giovannucci Uzielli
10
;
11
;
Christopher T. Gordon
12
;
13
;
Ghislaine Plessis
14
;
Martine Le Merrer
14
;
Jeanne Amiel
14
;
Ernst Reichenberger
15
;
Kathryn M. Shively
2
;
Felecia Cerrato
16
;
Brian I. Labow
16
;
Holly K. Tabor
17
;
Joshua D. Smith
3
;
Jay Shendure
3
;
Deborah A. Nickerson
3
;
Michael
J.
Bamshad
2
;
3
;
m
bamshad
@uw.edu
;
the University of Washington Center for Mendelian Genomics
刊名:The American Journal of Human Genetics
出版年:2013
8.
Actionable, Pathogenic Incidental Findings in 1,000 Participants¡¯ Exomes
作者:
Michael
?O. Dorschner
;
Laura?M. Amendola
;
Emily?H. Turner
;
Peggy?D. Robertson
;
Brian?H. Shirts
;
Carlos?J. Gallego
;
Robin?L. Bennett
;
Kelly?L. Jones
;
Mari?J. Tokita
;
James?T. Bennett
;
Jerry?H. Kim
;
Elisabeth?A. Rosenthal
;
Daniel?S. Kim
;
National Heart
;
Lung
;
?Blood Institute Gr
;
Opportunity Exome Sequencing Project
;
Holly?K. Tabor
;
Michael
?J.
Bamshad
;
Arno?G. Motulsky
;
C.?Ronald Scott
;
Colin?C. Pritchard
;
Tom Walsh
;
et al.
刊名:The American Journal of Human Genetics
出版年:2013
9.
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
作者:
Bobby G. Ng
1
;
Kati J. Buckingham
2
;
Kimiyo Raymond
3
;
Martin Kircher
4
;
Emily H. Turner
4
;
Miao He
5
;
Joshua D. Smith
4
;
Alexey Eroshkin
1
;
Marta Szybowska
6
;
Marie E. Losfeld
1
;
Jessica X. Chong
2
;
Mariya Kozenko
6
;
Chumei Li
6
;
Marc C. Patterson
7
;
Rodney D. Gilbert
8
;
Deborah A. Nickerson
4
;
Jay Shendure
4
;
Michael
J.
Bamshad
2
;
4
;
University of Washington Center for Mendelian Genomics
刊名:The American Journal of Human Genetics
出版年:2013
10.
Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D
作者:
Margaret J. McMillin
1
;
2
;
Jennifer E. Below
3
;
Kathryn M. Shively
1
;
Anita E. Beck
1
;
2
;
Heidi I. Gildersleeve
1
;
Jason Pinner
4
;
Gloria R. Gogola
5
;
Jacqueline T. Hecht
6
;
Dorothy K. Grange
7
;
David J. Harris
8
;
Dawn L. Earl
2
;
Sujatha Jagadeesh
9
;
Sarju G. Mehta
10
;
Stephen P. Robertson
11
;
James M. Swanson
12
;
Elaine M. Faustman
13
;
Heather C. Mefford
1
;
2
;
Jay Shendure
3
;
Deborah A. Nickerson
3
;
Michael
J.
Bamshad
1
;
2
;
3
;
m
bamshad
@uw.edu
;
the University of Washington Center for Mendelian Genomics
刊名:The American Journal of Human Genetics
出版年:2013
1
2
3
4
按检索点细分(36)
作者(36)
按出版年细分(36)
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2000年及以前(5)
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