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(3)
SpringerLink电子期刊(84)
NATURE电子期刊(1)
Springer电子图书(6)
ProQuest学位论文(1)
Elsevier电子期刊(76)
在“
Elsevier电子期刊
”中,
命中:
76
条,耗时:小于0.01 秒
在所有数据库中总计命中:
171
条
1.
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
作者:
Francesco Calì
;
a
;
cali@oasi.en.it
;
Valeria Chiavetta
a
;
Giuseppa Ruggeri
a
;
Maria Piccione
b
;
Angelo Selicorni
c
;
d
;
Daniela Palazzo
b
;
Maria Bonsignore
e
;
Anna Cereda
f
;
Maurizio Elia
g
;
Pinella Failla
g
;
Maria Grazia Figura
g
;
Agata Fiumara
h
;
Silvia Maitz
c
;
Giuseppa Maria Luana Mandarà
;
i
;
Teresa Mattina
h
;
Alda Ragalmuto
a
;
Corrado Romano
g
;
Martino Ruggieri
h
;
Roberto Salluzzo
a
;
Antonino Saporoso
e
;
Carmelo Schepis
g
;
Giovanni Sorge
h
;
Maria Spanò
;
e
;
Gaetano Tortorella
e
;
Valentino Romano
j
关键词:
Neurofibromatosis type 1
;
Legius's syndrome
;
Next generation sequencing
;
Mosaicism
刊名:European Journal of Medical Genetics
出版年:2017
2.
An Update on Neurofibromatosis Type 1: Not Just Café-au-
Lait
Spot
s, Freckling, and Neurofibromas. An Update. Part I. Dermatological Clinical Criteria Diagnostic of the Disease
作者:
A. Herná
;
ndez-Martí
;
n
a
;
ahernandez_hnj@yahoo.es" class="auth_mail" title="E-mail the corresponding author
;
A. Duat-Rodrí
;
guez
b
关键词:
Neurofibromatosis type 1
;
Cafe-au-
lait
spot
s
;
Ephelids
;
Freckling
;
Neurofibroma
;
Legius syndrome
;
RASopathies
;
LEOPARD syndrome
;
Albinism
;
Neurofibromin
刊名:Actas Dermo-Sifiliográficas (English Edition)
出版年:2016
3.
An Update on Neurofibromatosis Type 1: Not Just Café-au-
Lait
Spot
s and Freckling. Part II. Other Skin Manifestations Characteristic of NF1. NF1 and Cancer
作者:
A. Herná
;
ndez-Martí
;
n
a
;
ahernandez_hnj@yahoo.es" class="auth_mail" title="E-mail the corresponding author
;
A. Duat-Rodrí
;
guez
b
关键词:
Neurofibromatosis type 1
;
Juvenile xanthogranuloma
;
Nevus anemicus
;
Glomus tumor
;
Malignant peripheral nerve sheath tumor
;
Glioma
;
Melanoma
;
Genetic counseling
刊名:Actas Dermo-Sifiliográficas (English Edition)
出版年:2016
4.
Peripheral retinal ischemia in a young Indian woman with neurofibromatosis type 1
作者:
Anisha Seth
;
anisha3seth@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Basudeb Ghosh
;
Anika Gupta
;
Neha Goel
关键词:
Peripheral retinal ischemia
;
Neurofibromatosis-1
;
Café
;
-au-
lait
spot
s
刊名:Saudi Journal of Ophthalmology
出版年:2016
5.
Insidious malignant triton tumor of the chest wall with late flare-up
作者:
Jeng-Yuan Wu
a
;
b
;
jyuan.wu@tzuchi.com.tw" class="auth_mail" title="E-mail the corresponding author
;
Lai-Fa Sheu
b
;
c
;
Chao-Yuan Yao
d
关键词:
Chest wall tumor
;
Malignant peripheral nerve sheath tumor
;
Malignant triton tumor
刊名:Tzu Chi Medical Journal
出版年:2016
6.
Multiple odontogenic cysts in a patient with Neurofibromatosis-Noonan syndrome
作者:
Hiromi Yamashita
a
;
Shuichi Fujita
b
;
Tohru Ikeda
b
;
Izumi Asahina
a
;
asahina@nagasaki-u.ac.jp" class="auth_mail" title="E-mail the corresponding author
关键词:
Neurofibromatosis&ndash
;
Noonan syndrome
;
Multiple jaw cysts
;
Keratocystic odontogenic tumor
;
Dentigerous cyst
刊名:Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology
出版年:2016
7.
McCune-Albright syndrome, natural history and multidisciplinary management in a series of 14 pediatric cases
作者:
Mikael Agopiantz
a
;
m.agopiantz@chu-nancy.fr" class="auth_mail" title="E-mail the corresponding author
;
Pierre Journeau
b
;
Bé
;
atrice Lebon-Labich
c
;
Arthur Sorlin
c
;
Thomas Cuny
a
;
Georges Weryha
a
;
d
;
Bruno Leheup
c
;
d
关键词:
McCune&ndash
;
Albright syndrome
;
Pediatrics
;
Natural history
;
Management
;
Disability
刊名:Annales d'Endocrinologie
出版年:2016
8.
Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome
作者:
Tim Ripperger
;
ripperger.tim@mh-hannover.de" class="auth_mail" title="E-mail the corresponding author
;
Brigitte Schlegelberger
关键词:
Acute lymphoblastic leukemia
;
Constitutional mismatch repair deficiency (CMMRD)
;
Genetic predisposition
;
Pediatric cancer predisposition
刊名:European Journal of Medical Genetics
出版年:2016
9.
Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas
作者:
Jelte Helfferich
a
;
c
Author Vitae
;
Ronald Nijmeijer
b
;
Oebele F. Brouwer
c
;
Maartje Boon
c
;
Annemarie Fock
c
;
Eelco W. Hoving
d
;
Lisethe Meijer
a
;
Wilfred F.A. den Dunnen
b
;
Eveline S.J.M. de Bont
a
;
e.s.j.m.de.bont@umcg.nl" class="auth_mail" title="E-mail the corresponding author
Author Vitae
关键词:
NF1
;
neurofibromatosis type 1
;
LGG
;
low grade glioma
;
MAPK
;
mitogen activated protein kinase
;
mTOR
;
mammalian target of rapamycin
;
PA
;
pilocytic astrocytoma
;
MPNST
;
malignant peripheral nerve sheath tumours
;
GAP
;
GTPase-activating protein
;
RB
;
retinoblastoma
;
GFAP
;
glial fibrillary acid protein
;
OPG
;
optic pathway glioma
;
JNK
;
c-Jun-Nh2-kinase
;
FTI
;
Farnestyltransferase inhibitors
刊名:Critical Reviews in Oncology and Hematology
出版年:2016
10.
Malignant pheochromocytoma and neurofibromatosis type 1
作者:
K. Osmani
;
ken_kallima@hotmail.com" class="auth_mail" title="E-mail the corresponding author
(Dr)
;
S. Azzoug (Pr)
;
F. Chentli (Pr)
刊名:Annales d'Endocrinologie
出版年:2016
1
2
3
4
5
6
7
8
按检索点细分(76)
题名(6)
关键词(8)
文摘(66)
按出版年细分(76)
2027年及以后(4)
2017年(1)
2016年(9)
2015年(1)
2013年(3)
2012年(4)
2011年(7)
2010年(4)
2009年(3)
2008年(4)
2007年(7)
2006年(5)
2005年(3)
2004年(1)
2003年(3)
2002年(5)
2000年(3)
2000年及以前(9)
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
.