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内部出版物
CNKI学位论文(36)
知网期刊论文(6)
在“
Elsevier电子期刊
”中,
命中:
14
条,耗时:小于0.01 秒
在所有数据库中总计命中:
42
条
1.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized
b
y Infantile Epilepsy, Cataracts, and Profound Developmental Delay
作者:
Kelly Schoch
1
;
29
;
Linyan Meng
2
;
3
;
29
;
Sza
b
olcs Szelinger
4
;
29
;
David R.
B
earden
5
;
As
b
jorg Stray-Pedersen
6
;
7
;
Oyvind L.
B
usk
8
;
Nicholas Stong
9
;
Eriskay Liston
10
;
Ronald D. Cohn
10
;
11
;
Fernando Scaglia
2
;
27
;
Jill A. Rosenfeld
2
;
Jennifer Tarpinian
12
;
Cara M. Skra
b
an
12
;
13
;
14
;
Matthew A. Deardorff
12
;
13
;
14
;
Jeremy N. Friedman
11
;
Zeynep Co
b
an Akdemir
7
;
Nicole Walley
1
;
Mohamad A. Mikati
15
;
Peter G. Kranz
16
;
Joan Jasien
15
;
Allyn McConkie-Rosell
1
;
Marie McDonald
1
;
Stephanie
B
urns
Wechsler
1
;
17
;
Michael Freemark
18
;
Sujay Kansagra
15
;
Sharon Freedman
19
;
Deeksha
B
ali
20
;
Francisca Millan
21
;
Sherri
B
ale
21
;
Stanley F. Nelson
4
;
23
;
Hane Lee
4
;
22
;
Naghmeh Dorrani
22
;
23
;
UCLA Clinical Genomics Center Stanley F. Nelson
;
Wayne W. Grody
;
Hane Lee
;
Samuel P. Strom
;
Eric Vilain
;
Joshua
Deignan
;
Fa
b
iola Quintero-Rivera
;
Si
b
el Kantarci
;
Naghmeh Dorrani
;
Sureni Mullegama
;
Sung-Hae Kang
;
Sza
b
olcs Szelinger
关键词:
NACC1
;
cataracts
;
microcephaly
;
epilepsy
;
whole-exome sequencing
;
developmental/intellectual disa
b
ilities
;
stereotypy
;
irrita
b
ility
刊名:The American Journal of Human Genetics
出版年:2017
2.
Neurocognitive Function in Children with Primary Hypertension
作者:
Marc
B
. Lande
;
MD
;
MPH
1
;
Marc_lande@urmc.rochester.edu
;
Donald L.
B
atisky
;
MD
2
;
Juan C. Kupferman
;
MD
;
MPH
3
;
Joshua
Samuels
;
MD
;
MPH
4
;
Stephen R. Hooper
;
PhD
5
;
B
onita Falkner
;
MD
6
;
Shari R. Waldstein
;
PhD
7
;
Peter G. Szilagyi
;
MD
;
MPH
8
;
Hongyue Wang
;
PhD
9
;
Jennifer Staskiewicz
;
MS
1
;
Heather R. Adams
;
PhD
10
关键词:
neuropsychological testing
;
b
lood pressure
;
o
b
esity
;
pediatric
;
adolescence
刊名:The Journal of Pediatrics
出版年:2017
3.
Depressive Symptoms in Children with Chronic Kidney Disease
作者:
Amy J. Kogon
;
MD
;
MPH
1
;
Matthew
B
. Matheson
;
MS
2
;
Joseph T. Flynn
;
MD
;
MS
3
;
Arlene C. Gerson
;
PhD
4
;
B
radley A. Warady
;
MD
5
;
Susan L. Furth
;
MD
;
PhD
6
;
Stephen R. Hooper
;
PhD
7
;
for the Chronic Kidney Disease in Children (CKiD) Study Group
&lowast
;
B
radley Warady
;
MD
;
Allison Dart
;
MD
;
MSc
;
FRCPC
;
Larry Green
b
aum
;
MD
;
PhD
;
B
radley Warady
;
MD
;
Jens Goe
b
el
;
MD
;
Mark Mitsnefes
;
MD
;
Joseph Flynn
;
MD
;
Craig Wong
;
MD
;
Sahar Fathallah
;
MD
;
Isidro Salusky
;
MD
;
Ora Yadin
;
MD
;
Katherine Dell
;
MD
;
B
ruce Morgenstern
;
MD
;
Tom
B
lydt-Hansen
;
MD
;
FRCPC
;
Cynthia Pan
;
MD
;
Keefe Davis
;
MD
;
Amira Al-Uzri
;
MD
;
Randall Jenkins
;
MD
;
Anthony Portale
;
MD
;
Mouin Seikaly
;
MD
;
Martin Turman
;
MD
;
PhD
;
Cynthia Wong
;
MD
;
Steven Alexander
;
MD
;
Colleen Hastings
;
MD
;
Randall Jenkins
;
MD
;
Nancy Rodig
;
MD
;
William Harmon
;
MD
;
Sharon
B
artosh
;
MD
;
Nadine
B
enador
;
MD
;
Ro
b
ert Mak
;
MD
;
PhD
;
Ellen Wood
;
MD
;
Randall Jenkins
;
MD
;
Gary Lerner
;
MD
;
Susan Furth
;
MD
;
PhD
;
Susan Furth
;
MD
;
PhD
;
Susan Massengill
;
MD
;
Guillermo Hidalgo
;
MD
;
Meredith Atkinson
;
MD
;
De
bb
ie Gipson
;
MD
;
Poyyapakkam Srivaths
;
MD
;
Joshua
Samuels
;
MD
;
Frederick Kaskel
;
MD
;
PhD
;
De
b
ora Mattosian
;
MD
;
Yi Cai
;
MD
;
Sharon Andreoli
;
MD
;
PhD
;
Jeffrey Saland
;
MD
;
Amy Kogon
;
MD
;
Victoria Norwood
;
MD
;
Rulan Parekh
;
MD
;
Lisa Ro
b
inson
;
MD
;
Susan Mendley
;
MD
;
Marc Lande
;
MD
;
George Schwartz
;
MD
;
Patrick
B
rophy
;
MD
;
Eunice John
;
MD
;
Kiran Upadhyay
;
MD
;
Maria Ferris
;
MD
;
Tej Matoo
;
MD
;
Juan Kupferman
;
MD
;
Lynne Weiss
;
MD
;
Craig Langman
;
MD
;
Patricia Seo-Mayer
;
MD
;
Kanwal Kher
;
MD
;
Dmitry Samsonov
;
MD
关键词:
CDI
;
Children's Depression Inventory
;
CKD
;
Chronic kidney disease
;
CKiD
;
Chronic Kidney Disease in Children
;
GFR
;
Glomerular filtration rate
;
HRQoL
;
Health-related quality of life
;
PedsQL
;
Pediatric Inventory of Quality of Life Core Scales 4.0
;
RRT
;
Renal replacement therapy
刊名:The Journal of Pediatrics
出版年:2016
4.
Presence of Food Allergy Alters the Presentation of Pediatric Eosinophilic Esophagitis
作者:
B
arry J. Pelz
;
MD
1
;
Joshua
B
.
Wechsler
;
MD
2
;
Anusha Reddy Gaddam
;
MS
3
;
Katie Amsden
;
MPH
4
;
B
arry Wershil
;
MD
2
;
Amir F. Kagalwalla
;
MD
2
;
Paul
B
ryce
;
PhD
5
刊名:Journal of Allergy and Clinical Immunology
出版年:2016
5.
Mo1178 Prospective Study Evaluating the Safety of Upper Endoscopy with
B
iopsies in Children with Eosinophilic Esophagitis
作者:
Chantal J. Lucia Casadonte
;
Michael Malandra
;
Joshua
B
.
Wechsler
;
Kristin Johnson
;
Gunjan Dokania
;
Maureen Sulkowski
;
Jessica Ross
;
Rasha Kazi
;
Jeffrey
B
rown
;
Amir F. Kagalwalla
刊名:Gastroenterology
出版年:2016
6.
IgE-mediated mast cell responses are inhi
b
ited
b
y thymol-mediated, activation-induced cell death in skin inflammation
作者:
Joshua
B
.
Wechsler
;
MD
a
;
Chia-Lin Hsu
;
PhD
b
;
Paul J.
B
ryce
;
PhD
b
;
p-
b
ryce@northwestern.edu" class="auth_mail
关键词:
Mast cell
;
thymol
;
calcium
;
passive cutaneous anaphylaxis
刊名:Journal of Allergy and Clinical Immunology
出版年:June 2014
7.
Allergic Mechanisms in Eosinophilic Esophagitis
作者:
Joshua
B
.
Wechsler
;
MD
a
;
Paul J.
B
ryce
;
PhD
b
;
p-
b
ryce@northwestern.edu" class="auth_mail
关键词:
Eosinophilic esophagitis
;
Allergic mechanism
;
Atopic
;
Antigen sensitization
;
T-helper lymphocyte type 2 immunity
;
Pathogenesis
刊名:Gastroenterology Clinics of North America
出版年:June 2014
8.
IgE-Mediated Mast Cell Responses Are Inhi
b
ited By Thymol-Mediated Activation-Induced Cell Death
作者:
Joshua
B
.
Wechsler
;
Chia-Lin Hsu
;
Paul
B
ryce
刊名:Journal of Allergy and Clinical Immunology
出版年:Fe
b
ruary, 2014
9.
Su1741 Evaluation of Endoscopic Visual Characteristics in Children With Eosinophilic Esophagitis
作者:
Alejandro Llanos-Chea
1
;
3
;
Katie Amsden
1
;
Kristin Johnson
1
;
Hector Melin-Aldana
2
;
Joshua
B
.
Wechsler
1
;
Amir Kagalwalla
1
;
3
刊名:Gastrointestinal Endoscopy
出版年:May, 2014
10.
Trans-middle temporal gyrus selective amygdalohippocampectomy for medically intracta
b
le mesial temporal lo
b
e epilepsy in adults: Seizure response rates, complications, and neuropsychological outcomes
作者:
S. Kathleen
B
andt
a
;
b
andtk@wudosis.wustl.edu
;
Nicole Werner
b
;
Jennifer Dines
c
;
Samiya Rashid
b
;
Lawrence N. Eisenman
b
;
R. Edward Hogan
b
;
Eric C. Leuthardt
a
;
1
;
Joshua
Dowling
a
;
1
关键词:
AHC
;
amygdalohippocampectomy
;
IFOF
;
Inferior Occipitofrontal Fasciculus
;
EEG
;
electroencephalogram
;
FDG-PET
;
Fluorodeoxyglucose Positron Emission Tomography
;
IQ
;
Intelligence Quotient
;
WTAR
;
Wechsler
Test of Adult Reading
;
CVLT-II
;
California Ver
b
al Learn
刊名:Epilepsy &
B
ehavior
出版年:2013
1
2
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