设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(13)
Elsevier电子期刊(17)
在“
Elsevier电子期刊
”中,
命中:
17
条,耗时:小于0.01 秒
在所有数据库中总计命中:
31
条
1.
Novel mutations for late onset Fabry disease are being identified from newborn screening in the state of Illinois
作者:
Shanna Widera
;
Jill Corkery
;
Joel
Charrow
刊名:Molecular Genetics and Metabolism
出版年:2017
2.
Pseudodeficiency of alpha-iduronidase is a common finding identified from newborn screening in the state of Illinois
作者:
Katherine G. Keating
;
Lauren Whiteaker
;
Jill Corkery
;
Joel
Charrow
;
Barbara Burton
刊名:Molecular Genetics and Metabolism
出版年:2016
3.
Strabismus in patients with neurofibromatosis type聽1-associated optic pathway glioma
作者:
Reut Parness-Yossifon
;
MD
a
;
Robert Listernick
;
MD
b
;
c
;
Joel
Charrow
;
MD
d
;
Heath Barto
;
CO
a
;
Janice Lasky Zeid
;
MD
a
;
jlaskyzeid@luriechildrens.org" class="auth_mail" title="E-mail the corresponding author
刊名:Journal of American Association for Pediatric Ophthalmology and Strabismus
出版年:2015
4.
EDGE: A Phase 3 study evaluating once versus twice daily dosing of eliglustat in patients with Gaucher disease type 1: interim results from the lead-in-period
作者:
Joel
Charrow
;
Hiroyuki Ida
;
Carla Hollak
;
Dominick Amato
;
Renata Cravo
;
Osamu Kawaguchi
;
Yong Xue
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
5.
Growth Hormone Excess in Children with Neurofibromatosis Type 1-Associated and Sporadic Optic Pathway Tumors
作者:
Jami Josefson
;
Robert Listernick
;
Jason R. Fangusaro
;
Joel
Charrow
;
Reema Habiby
刊名:The Journal of Pediatrics
出版年:2011
6.
Gustatory Flushing (Auriculotemporal Nerve Syndrome) in Children with Neurofibromatosis Type 1 and Facial Plexiform Neurofibromas
作者:
Robert Listernick
;
Eric Legius
;
Joel
Charrow
刊名:The Journal of Pediatrics
出版年:2011
7.
Episodic myoglobinuria in a primary gamma-sarcoglycanopathy
作者:
Loren Pena
;
Katherine Kim
;
Joel
Charrow
关键词:
Gamma-sarcoglycanopathy
;
Muscular dystrophy
;
Myoglobinuria
;
Metabolic myopathy
;
Rhabdomyolysis
刊名:Neuromuscular Disorders
出版年:2010
8.
144. Fabry nephropathy (FN) and the agalsidase beta and ARBs and ACE inhibitor treatment (FAACET) study: Determinants of proteinuria during the titration phase
作者:
David G. Warnock
;
Leslie Jackson
;
Christie Thomas
;
Emily Phillips
;
Tony Guasch
;
Dawn A. Laney
;
Joel
Charrow
;
Shanna Widera
;
on behalf of the FAACET Investigators
刊名:Molecular Genetics and Metabolism
出版年:2010
9.
Orbital optic nerve gliomas in children with neurofibromatosis type 1
作者:
Janice Lasky Zeid
;
Joel
Charrow
;
Mariana S
u ;
Stewart Goldman
;
Robert Listernick
关键词:
Bronchial epithelial cells
;
ERK1/2
;
GM-CSF
;
MAP kinase
;
Raf1
刊名:Journal of American Association for Pediatric Ophthalmology and Strabismus
出版年:2006
10.
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
作者:
Joel
Charrow
;
Hans C. Andersson
;
Paige Kaplan
;
Edwin H. Kolodny
;
Pramod Mistry
;
Gregory Pastores
;
Ainu Prakash-Cheng
;
Barry E. Rosenbloom
;
C.Ronald Scott
;
Rebecca S. Wappner
;
Neal J. Weinreb
刊名:The Journal of Pediatrics
出版年:2004
1
2
按检索点细分(17)
作者(17)
按出版年细分(17)
2027年及以后(1)
2017年(1)
2016年(1)
2015年(1)
2011年(2)
2010年(2)
2006年(1)
2004年(1)
2002年(1)
2000年及以前(6)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.