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内部出版物
CNKI学位论文(38)
知网期刊论文(8)
在“
Wiley电子期刊
”中,
命中:
2
条,耗时:小于0.01 秒
在所有数据库中总计命中:
46
条
1.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
作者:
Bobby G. Ng
;
Sergey A. Shiryaev
;
Daisy Rymen
;
Erik A. Eklund
;
Kimiyo Raymond
;
Martin Kircher
;
J
ose E. Abdenur
;
Fusun Alehan
;
Alina T. Midro
;
Michael
J
. Bamshad
;
Rita Barone
;
Gerard T. Berry
;
J
ane E. Brumbaugh
;
Kati
J
.
Buckingham
;
Kati
e Clarkson
;
F. Sessions Cole
;
Shawn O'
;
Connor
;
Gregory M. Cooper
;
Rudy Van Coster
;
Laurie A. Demmer
;
Luisa Diogo
;
Alexander
J
. Fay
;
Can Ficicioglu
;
Agata Fiumara
;
William A. Gahl
;
Rebecca Ganetzky
;
Himanshu Goel
;
Lyndsay A. Harshman
;
Miao He
;
J
aak Jaeken
;
Philip M.
J
ames
;
Daniel Katz
;
Liesbeth Keldermans
;
Maria Kibaek
;
Andrew
J
. Kornberg
;
Katherine Lachlan
;
Christina Lam
;
J
oy Yaplito-Lee
;
Deborah A. Nickerson
;
Heidi L. Peters
;
Valerie Race
;
Luc Ré
;
gal
;
J
effrey S. Rush
;
S. Lane Rutledge
;
J
ay Shendure
;
Erika Souche
;
Susan E. Sparks
;
Pamela Trapane
;
Amarilis Sanchez-Valle
;
Eric Vilain
;
Arve Vø
;
llo
;
Charles
J
. Waechter
;
Raymond Y. Wang
;
Lynne A. Wolfe
;
Derek A. Wong
;
Tim Wood
;
Amy C. Yang
;
University of Washington Center for Mendelian Genomics
;
Gert Matthi
j
s and Hudson H. Freeze
刊名:Human Mutation
出版年:2016
2.
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features
作者:
Patricia G. Wheeler
;
Bobby G. Ng
;
Laura Sanford
;
V. Reid Sutton
;
Dennis W. Bartholomew
;
Matthew T. Pastore
;
Michael
J
. Bamshad
;
Martin Kircher
;
Kati
J
.
Buckingham
;
Deborah A. Nickerson
;
J
ay Shendure and Hudson H. Freeze
刊名:American
J
ournal of Medical Genetics Part A
出版年:2016
1
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作者(2)
按出版年细分(2)
2016年(2)
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