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SpringerLink电子期刊(18)
NATURE电子期刊(7)
Elsevier电子期刊(65)
在“
Elsevier电子期刊
”中,
命中:
65
条,耗时:小于0.01 秒
在所有数据库中总计命中:
90
条
1.
A
S
yndromic Neurodevelopmental Di
s
order Cau
s
ed by De Novo Variant
s
in EBF3
作者:
H
s
iao-Tuan Chao<
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up>1
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up><
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up><
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up>13
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Mari
s
ka David
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<
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up>3
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up><
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up>
;
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up><
s
up>13
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up>
;
Elizabeth Burke<
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up>4
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;
John G. Pappa
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<
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up>5
s
up>
;
Jill A. Ro
s
enfeld<
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up>6
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up>
;
Alexandra J. McCarty<
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;
Taylor Davi
s
<
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up>4
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;
Lynne Wolfe<
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;
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;
Camilo Toro<
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;
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;
Cynthia Tifft<
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;
Fan Xia<
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Nichola
s
Stong<
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;
Travi
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K. John
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on<
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up>
;
Coral G. Warr<
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up>9
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;
Undiagno
s
ed Di
s
ea
s
e
s
Network David R. Adam
s
;
Chri
s
topher J. Adam
s
;
Mercede
s
E. Alejandro
;
Patrick Allard
;
Euan A. A
s
hley
;
Carlo
s
A. Bacino
;
A
s
hok Bala
s
ubramanyam
;
Hayk Bar
s
eghyan
;
Alan H. Begg
s
;
Hugo J. Bellen
;
Jonathan A. Bern
s
tein
;
David P. Bick
;
Camille L. Birch
;
Braden E. Boone
;
Lauren C. Briere
;
Donna M. Brown
;
Matthew Bru
s
h
;
Lind
s
ay C. Burrage
;
Katherine R. Chao
;
Gary D. Clark
;
Joy D. Cogan
;
Cynthia M. Cooper
;
William J. Craigen
;
Mari
s
ka David
s
;
Jyoti G. Dayal
;
E
s
teban C. Dell'Angelica
;
S
hweta U. Dhar
;
Katrina M. Dipple
;
Laurel A. Donnell-Fink
;
Naghmeh Dorrani
;
Dan C. Dor
s
et
;
David D. Draper
;
Annika M. Drie
s
;
David J. Eck
s
tein
;
Li
s
a T. Emrick
;
Chri
s
tine M. Eng
;
Cecilia E
s
teve
s
;
Tyra E
s
twick
;
Paul G. Fi
s
her
;
Trevor
S
. Fri
s
by
;
Kate Fro
s
t
;
William A. Gahl
;
Valerie Gartner
;
Rena A. Godfrey
;
Mitchell Goheen
;
Gretchen A. Gola
s
;
David B. Gold
s
tein
;
Mary &ldquo
;
Gracie&rdquo
;
G. Gordon
;
S
arah E. Gould
;
Jean-Philippe F. Gourdine
;
Brett H. Graham
;
Catherine A. Groden
;
Andrea L. Gropman
;
Mary E. Hackbarth
;
Meli
ss
a Haendel
;
Rizwan Hamid
;
Neil A. Hanchard
;
Lori H. Handley
;
I
s
abel Hardee
;
Matthew R. Herzog
;
Ingrid A. Holm
;
Ellen M. Howerton
;
Howard J. Jacob
;
Mahim Jain
;
Yong-hui Jiang
;
Jean M. John
s
ton
;
Angela L. Jone
s
;
Alanna E. Koehler
;
David M. Koeller
;
I
s
aac S. Kohane
;
Jennefer N. Kohler
;
Donna M. Kra
s
newich
;
Elizabeth L. Krieg
;
Joel B. Krier
;
Jennifer E. Kyle
;
S
eema R. Lalani
;
Lea Latham
;
Yvonne L. Latour
;
C. Chri
s
topher Lau
;
Jozef Lazar
;
Brendan H. Lee
;
Hane Lee
;
Paul R. Lee
;
S
hawn E. Levy
;
Deni
s
e J. Levy
;
Richard A. Lewi
s
;
Adam P. Liebendorder
;
S
haryn A. Lincoln
;
Car
s
on R. Loomi
s
;
Jo
s
eph Lo
s
calzo
;
Richard L. Maa
s
;
Ellen F. Macnamara
;
Calum A. MacRae
;
Valerie V. Maduro
;
May Chri
s
tine V. Malicdan
;
Laura A. Mamouna
s
;
Teri A. Manolio
;
Thoma
s
C. Markello
;
Azamian
S
. Ma
s
hid
;
Paul Mazur
;
Alexandra J. McCarty
;
Allyn McConkie-Ro
s
ell
;
Alexa T. McCray
;
Thoma
s
O. Metz
;
Matthew Might
;
Paolo M. Moretti
;
John J. Mulvihill
;
Jennifer L. Murphy
;
Donna M. Muzny
;
Michele E. Nehrebecky
;
S
tan F. Nel
s
on
;
J.
S
cott Newberry
;
John H. Newman
;
S
arah K. Nichola
s
;
Donna Novacic
;
Jordan
S
.
Orange
;
J. Carl Pallai
s
;
Chri
s
tina G.S. Palmer
;
Jeanette C. Papp
;
Loren D.M. Pena
;
John A. Phillip
s
III
;
Jennifer E. Po
s
ey
;
John H. Po
s
tlethwait
;
Lorraine Potocki
;
Barbara N. Pu
s
ey
;
Rachel B. Ramoni
;
Lance H. Rodan
;
S
arah Sadozai
;
Katherine E.
S
chaffer
;
Kelly
S
choch
;
Molly C.
S
chroeder
;
Daryl A.
S
cott
;
Pra
s
hant Sharma
;
Vandana
S
ha
s
hi
;
Edwin K.
S
ilverman
;
Janet
S
. Sin
s
heimer
;
Ariane G.
S
oldato
s
;
Rebecca C.
S
pillmann
;
Kimberly
S
plinter
;
Joan M.
S
toler
;
Nichola
s
Stong
;
Kimberly A.
S
trong
;
Jennifer A.
S
ullivan
;
David A.
S
weet
s
er
;
S
ara P. Thoma
s
;
Cynthia J. Tift
;
Nathanial J. Tolman
;
Camilo Toro
;
Aly
ss
a A. Tran
;
Zaheer M. Valivullah
;
Eric Vilain
;
Daryl M. Waggott
;
Colleen E. Wahl
;
Nicole M. Walley
;
Chri
s
A. Wal
s
h
;
Michael F. Wangler
;
Mike Warburton
;
Patricia A. Ward
;
Katrina M. Water
s
;
Bobbie-Jo M. Webb-Robert
s
on
;
Alec A. Weech
;
Monte We
s
terfield
;
Matt T. Wheeler
;
Ana
s
ta
s
ia L. Wi
s
e
;
Lynne A. Worthe
;
Elizabeth A. Worthey
;
S
hinya Yamamoto
;
Yaping Yang
;
Guoyun Yu
;
Patricia A. Zornio
关键词:
Dro
s
ophila
;
knot
;
ataxia
;
hypotonia
;
intellectual di
s
ability
;
expre
ss
ive
s
peech di
s
order
;
COE3
;
tran
s
cription factor
;
vermian hypopla
s
ia
;
inhibitory GABAergic neuron
s
刊名:The American Journal of Human Genetic
s
出版年:2017
2.
Quantifying groundwater travel time near managed recharge operation
s
u
s
ing <
s
up>35
s
up>S a
s
an intrin
s
ic tracer
作者:
S
tephanie H. Urió
;
s
tegui<
s
up>a
s
up><
s
up>
;
s
up><
s
up>
s
tephanieurio
s
tegui@umail.uc
s
b.edu
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up>
;
Richard K. Bibby<
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up>b
s
up>
;
Bradley K. E
ss
er<
s
up>b
s
up>
;
Jordan
F. Clark<
s
up>a
s
up>
关键词:
Hydrologic tracer
s
;
Travel time
;
Retention time
;
S
ulfur-35
;
Montebello Forebay
;
Orange
County Recharge Operation
刊名:Journal of Hydrology
出版年:2016
3.
Rapid molecular diagno
s
tic
s
of
s
evere primary immunodeficiency determined by u
s
ing targeted next-generation
s
equencing
作者:
Hui Yu
;
PhD<
s
up>a
s
up><
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up>
;
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up><
s
up>&lowa
s
t
;
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;
Victor Wei Zhang
;
MD
;
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t
;
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bj&o
s
la
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h
;
rg
S
tray-Peder
s
en
;
MD
;
PhD<
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up>c
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up><
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;
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up><
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;
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;
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up><
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;
Imelda Celine Han
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on
;
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Li
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a R. Forbe
s
;
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;
M. Tere
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a de la Morena
;
MD<
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Ivan K. Chinn
;
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;
Elizabeth Gorman
;
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Nancy J. Mendel
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Tamara Pozo
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MD
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Wojciech Wi
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arah K. Nichola
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Anne B. Yate
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Lind
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ey E. Moore
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Knut Erik Berge
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Hanne
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orte
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Diana K. Bayer
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Daifulah ALZahrani
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Raif
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. Geha
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Yanming Feng
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PhD<
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Guoli Wang
;
PhD<
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up>a
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;
Jordan
S
.
Orange
;
MD
;
PhD<
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up>c
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up><
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up>
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s
up><
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up>d
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Jame
s
R. Lup
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ki
;
MD
;
PhD
;
D
S
c (hon)<
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up>b
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up><
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;
s
up><
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up>e
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up>
;
s
up><
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up>o
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up>
;
Jing Wang
;
MD<
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up>
;
Lee-Jun Wong
;
PhD<
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up>b
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up><
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up>
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up><
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up>ljwong@bcm.edu" cla
ss
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s
ponding author
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up>
关键词:
S
evere combined immunodeficiency
;
s
evere combined immunodeficiency newborn
s
creening
;
next-generation
s
equencing
;
molecular diagno
s
tic
s
刊名:Journal of Allergy and Clinical Immunology
出版年:2016
4.
Adoptive immunotherapy for primary immunodeficiency di
s
order
s
with viru
s
-
s
pecific T lymphocyte
s
作者:
S
wati Naik
;
MD<
s
up>a
s
up><
s
up>
;
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up><
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up>b
s
up><
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up>
;
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up><
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up>&lowa
s
t
;
s
up>
;
S
arah K. Nichola
s
;
MD<
s
up>c
s
up><
s
up>
;
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up><
s
up>n
s
up><
s
up>
;
s
up><
s
up>&lowa
s
t
;
s
up>
;
Caridad A. Martinez
;
MD<
s
up>a
s
up><
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up>
;
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up><
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up>b
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;
Ann M. Leen
;
PhD<
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up>a
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up>
;
Patrick J. Hanley
;
PhD<
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up>d
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up><
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;
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up><
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up>e
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up>
;
S
teven M. Gott
s
chalk
;
MD<
s
up>b
s
up>
;
Cliona M. Rooney
;
PhD<
s
up>a
s
up>
;
I. Celine Han
s
on
;
MD
;
PhD<
s
up>c
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up>
;
Robert A. Krance
;
MD<
s
up>b
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up>
;
Elizabeth J.
S
hpall
;
MD<
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up>p
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up>
;
Conrad R. Cruz
;
MD
;
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Per
s
i
s
Amrolia
;
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Giovanna Lucchini
;
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Nancy Bunin
;
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Jennifer Heimall
;
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Orly R. Klein
;
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Andrew R. Gennery
;
MD<
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Mary A.
S
latter
;
MD<
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Mark A. Vicker
s
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Jordan
S
.
Orange
;
MD
;
PhD<
s
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up><
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up><
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Helen E. He
s
lop
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MD
;
PhD<
s
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up><
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up><
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up>b
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Catherine M. Bollard
;
MD<
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Michael D. Keller
;
MD<
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s
up><
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s
up><
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up>o
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up><
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up><
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up>mkeller@cnmc.org" cla
ss
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s
ponding author
s
up>
关键词:
Primary immunodeficiency
;
immunotherapy
;
cytotoxic T lymphocyte
s
;
antiviral therapy
刊名:Journal of Allergy and Clinical Immunology
出版年:2016
5.
Mutation in IRF2BP2 i
s
re
s
pon
s
ible for a familial form of common variable immunodeficiency di
s
order
作者:
Michael D. Keller
;
MD<
s
up>a
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up><
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up>
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up><
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t
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Rahul Pandey
;
PhD<
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up><
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up><
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up>&lowa
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t
;
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up>
;
Dong Li
;
PhD<
s
up>b
s
up><
s
up>
;
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up><
s
up>&lowa
s
t
;
s
up>
;
Jo
s
eph Gle
ss
ner
;
PhD<
s
up>b
s
up><
s
up>
;
s
up><
s
up>&Dagger
;
s
up>
;
Lifeng Tian
;
PhD<
s
up>b
s
up><
s
up>
;
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up><
s
up>&Dagger
;
s
up>
;
S
arah E. Henrick
s
on
;
MD
;
PhD<
s
up>c
s
up>
;
Ivan K. Chinn
;
MD<
s
up>d
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up><
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up><
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up>e
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up>
;
Linda Monaco-
S
hawver
;
B
S
c<
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up>b
s
up><
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up>
;
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up><
s
up>c
s
up>
;
Jennifer Heimall
;
MD<
s
up>c
s
up>
;
Cuiping Hou
;
B
S
c<
s
up>b
s
up>
;
Frederick G. Otieno
;
M
S
<
s
up>b
s
up>
;
S
oma Jyonouchi
;
MD<
s
up>c
s
up>
;
Leonard Calabre
s
e
;
DO<
s
up>f
s
up>
;
Jori
s
van Montfran
s
;
MD<
s
up>g
s
up>
;
Jordan
S
.
Orange
;
MD
;
PhD<
s
up>d
s
up><
s
up>
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s
up><
s
up>&
s
ect
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up><
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up>
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s
up><
s
up>
orange
@bcm.edu" cla
ss
="auth_mail" title="E-mail the corre
s
ponding author
s
up>
;
Hakon Hakonar
s
on
;
MD
;
PhD<
s
up>b
s
up><
s
up>
;
s
up><
s
up>&
s
ect
;
s
up><
s
up>
;
s
up><
s
up>hakonar
s
on@email.chop.edu" cla
ss
="auth_mail" title="E-mail the corre
s
ponding author
s
up>
关键词:
Common variable immunodeficiency
;
machine learning
;
primary antibody deficiency
;
IRF2BP2
;
immunoglobulin
刊名:Journal of Allergy and Clinical Immunology
出版年:2016
6.
S
trengthening the Pipeline for Clinician-Scienti
s
t
s
: The Pediatrician-Scienti
s
t Training and Development Program at Texa
s
Children'
s
Ho
s
pital
作者:
Audrea M. Burn
s
;
PhD
;
Jake A. Ku
s
hner
;
MD
;
Mark A. Ward
;
MD
;
Teri L. Turner
;
MD
;
MPH
;
MEd
;
Mark W. Kline
;
MD
;
Jordan
S
.
Orange
;
MD
;
PhD<
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关键词:
BCM
;
Baylor College of Medicine
;
DNC
;
Didactic Noon Conference
;
NIH
;
National In
s
titute
s
of Health
;
PEP
;
Parallel Education Program
;
P
S
F
;
Pediatrician-
S
cienti
s
t Forum
;
P
S
TDP
;
Pediatrician-
S
cienti
s
t Training and Development Program
;
REM
;
Re
s
idency Educational Mentor
;
TCH
;
Texa
s
Children'
s
Ho
s
pital
刊名:The Journal of Pediatric
s
出版年:2016
7.
Long-Term Organ Function in Children Following Hematopoietic
S
tem Cell Tran
s
plantation for Chronic Granulomatou
s
Di
s
ea
s
e
作者:
Alexandra N. Cain
;
M
S
;
PA-C<
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up>1
s
up>
;
Imelda C. Han
s
on
;
MD<
s
up>2
s
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;
Li
s
a Forbe
s
;
MD<
s
up>2
s
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;
Filiz O.
S
eeborg
;
MD<
s
up>2
s
up>
;
Lenora M. Noro
s
ki
;
MD<
s
up>2
s
up>
;
Jordan
Orange
;
MD
;
PhD<
s
up>2
s
up>
;
Nichola
s
I. Rider
;
MD<
s
up>2
s
up>
;
William
S
hearer
;
MD
;
PhD<
s
up>2
s
up>
;
Kathryn Leung
;
MD<
s
up>1
s
up>
;
S
wati Naik
;
MD<
s
up>1
s
up>
;
S
tephen Gott
s
chalk
;
MD<
s
up>1
s
up>
;
Carl Allen
;
MD
;
PhD<
s
up>1
s
up>
;
Nabil Ahmed
;
MD<
s
up>1
s
up>
;
Ghadir
S
a
s
a
;
MD<
s
up>1
s
up>
;
Bilal Omer
;
MD<
s
up>1
s
up>
;
Ann M. Leen
;
PhD<
s
up>1
s
up>
;
Helen E. He
s
lop
;
MD<
s
up>3
s
up>
;
Robert A. Krance
;
MD<
s
up>1
s
up>
;
Caridad Martinez
;
MD<
s
up>1
s
up>
刊名:Biology of Blood and Marrow Tran
s
plantation
出版年:2016
8.
GATA2 deficiency underlying
s
evere bla
s
tomyco
s
i
s
and fatal herpe
s
s
implex viru
s
-a
ss
ociated hemophagocytic lymphohi
s
tiocyto
s
i
s
作者:
Michael A.
S
pinner
;
MD<
s
up>a
s
up>
;
Jennifer P. Ker
;
MD<
s
up>b
s
up>
;
Charle
s
J. Stoudenmire
;
MD<
s
up>c
s
up>
;
Oluwole Fadare
;
MD<
s
up>c
s
up>
;
Emily M. Mace
;
PhD<
s
up>d
s
up>
;
Jordan
S
.
Orange
;
MD
;
PhD<
s
up>d
s
up>
;
Amy P. H
s
u
;
BA<
s
up>e
s
up>
;
S
teven M. Holland
;
MD<
s
up>e
s
up><
s
up>
;
s
up><
s
up>
s
mh@nih.gov" cla
ss
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s
ponding author
s
up>
刊名:Journal of Allergy and Clinical Immunology
出版年:2016
9.
Acce
ss
ing Natural Killer Cell Antibody-Dependent Cell-Mediated Cytotoxicity Via CMV-Specific Hyperimmune Human Immunoglobulin
作者:
Ana
s
ta
s
iya Yermakova
;
PhD<
s
up>1
s
up>
;
Pinaki B. Banerjee
;
PhD<
s
up>1
s
up>
;
Levi B. Watkin
;
PhD<
s
up>1
s
up>
;
Alexandre F. Cari
s
ey
;
PhD<
s
up>1
s
up>
;
Cindy De Lo
s
Santo
s
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s
up>2
s
up>
;
Gail J. Demmler-Harri
s
on
;
MD<
s
up>2
s
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;
Jordan
S
.
Orange
;
MD
;
PhD
;
FAAAAI<
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up>1
s
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刊名:Journal of Allergy and Clinical Immunology
出版年:2016
10.
Outcome
s
after Matched Unrelated Donor Stem Cell Tran
s
plantation in Chronic Granulomatou
s
Di
s
ea
s
e - an Update
作者:
A
s
af Yanir
;
MD<
s
up>1
s
up>
;
Imelda C. Han
s
on
;
MD<
s
up>2
s
up>
;
Li
s
a Forbe
s
;
MD<
s
up>2
s
up>
;
Filiz O.
S
eeborg
;
MD<
s
up>2
s
up>
;
Lenora M. Noro
s
ki
;
MD<
s
up>2
s
up>
;
Jordan
Orange
;
MD
;
PhD<
s
up>2
s
up>
;
Nichola
s
I. Rider
;
MD<
s
up>2
s
up>
;
William
S
hearer
;
MD
;
PhD<
s
up>2
s
up>
;
Kathryn Leung
;
MD<
s
up>1
s
up>
;
S
wati Naik
;
MD<
s
up>1
s
up>
;
S
tephen Gott
s
chalk
;
MD<
s
up>1
s
up>
;
Carl Allen
;
MD
;
PhD<
s
up>1
s
up>
;
Nabil Ahmed
;
MD<
s
up>1
s
up>
;
Ghadir
S
a
s
a
;
MD<
s
up>1
s
up>
;
Bilal Omer
;
MD<
s
up>1
s
up>
;
Meena Hegde
;
MD<
s
up>1
s
up>
;
Ann M. Leen
;
PhD<
s
up>1
s
up>
;
George Carrum
;
MD<
s
up>1
s
up>
;
Helen E. He
s
lop
;
MD<
s
up>3
s
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;
Malcolm K. Brenner
;
MD
;
PhD<
s
up>1
s
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;
Robert A. Krance
;
MD<
s
up>1
s
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;
Caridad Martinez
;
MD<
s
up>1
s
up>
刊名:Biology of Blood and Marrow Tran
s
plantation
出版年:2016
1
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