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
CNKI学位论文(16)
在“
Elsevier电子期刊
”中,
命中:
12
条,耗时:小于0.01 秒
在所有数据库中总计命中:
16
条
1.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
作者:
Gavin Arno
1
;
2
;
Keren J. Carss
3
;
4
;
Sarah Hull
1
;
2
;
Ceniz Zihni
1
;
Anthony G. Robson
1
;
2
;
Alessia Fiorentino
1
;
UK Inherited Retinal Disease Consortium Graeme Black
;
Georgina Hall
;
Stuart Ingram
;
Rachel Gillespie
;
Forbes Manson
;
Panagiotis Sergouniotis
;
Chris Inglehearn
;
Carmel Toomes
;
Manir Ali
;
Martin McKibbin
;
James Poulter
;
Kamron Khan
;
Emma Lord
;
Andrea Nemeth
;
Susan Downes
;
Stephanie
Halford
;
Jing Yu
;
Stefano Lise
;
Gavin Arno
;
Alessia Fiorentino
;
Nikos Ponitkos
;
Vincent Plagnol
;
Michel Michaelides
;
Alison J. Hardcastle
;
Michael E. Cheetham
;
Andrew R. Webster
;
Veronica van Heyningen
关键词:
retinitis pigmentosa
;
inherited retinal dystrophy
;
retinal degeneration
;
ARHGEF18
;
p114RhoGEF
;
apicobasal polarity
刊名:The American Journal of Human Genetics
出版年:2017
2.
Isoforms of Melanopsin Mediate Different Behavioral Responses to Light
作者:
Aarti Jagannath
1
;
2
;
5
;
Steven Hughes
1
;
2
;
5
;
Amr Abdelgany
3
;
Carina A. Pothecary
1
;
Simona Di Pretoro
1
;
Susana S. Pires
1
;
Athanasios Vachtsevanos
1
;
Violetta Pilorz
1
;
Laurence A. Brown
1
;
Markus Hossbach
4
;
Robert E. MacLaren
1
;
Stephanie
Halford
1
;
Silvia Gatti
2
;
Mark W. Hankins
1
;
Matthew J.A. Wood
3
;
Russell G. Foster
1
;
russell.foster@eye.ox.ac.uk" class="auth_mail" title="E-mail the corresponding author
;
Stuart N. Peirson
1
;
stuart.peirson@eye.ox.ac.uk" class="auth_mail" title="E-mail the corresponding author
刊名:Current Biology
出版年:2015
3.
Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy
作者:
Stephanie
Halford
;
PhD
1
;
&lowast
;
&lowast
;
;
stephanie
.
halford
@eye.ox.ac.uk" class="auth_mail
;
Gerald Liew
;
PhD
2
;
3
;
&lowast
;
&lowast
;
;
Donna S. Mackay
;
PhD
3
;
Panagiotis I. Sergouniotis
;
PhD
3
;
4
;
Richard Holt
;
DPhil
1
;
Suzanne Broadgate
;
PhD
1
;
Emanuela V. Volpi
;
PhD
5
;
&lowast
;
;
Louise Ocaka
;
PhD
6
;
Anthony G. Robson
;
PhD
3
;
4
;
Graham E. Holder
;
PhD
3
;
4
;
Anthony T. Moore
;
MD
3
;
4
;
Michel Michaelides
;
MD
3
;
4
;
Andrew R. Webster
;
MD
3
;
4
刊名:Ophthalmology
出版年:June 2014
4.
Focus on Molecules: Cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2)
作者:
Donna S. Mackay
;
Stephanie
Halford
关键词:
CYP4V2
;
Bietti corneoretinal dystrophy
;
retinal dystrophy
;
autosomal recessive
;
mutation
;
lipid metabolism
刊名:Experimental Eye Research
出版年:2012
5.
VA Opsin-Based Photoreceptors in the Hypothalamus of Birds
作者:
Stephanie
Halford
;
Susana S. Pires
;
Michael Turton
;
Lei Zheng
;
Irene Gonzá
;
lez-Mené
;
ndez
;
Wayne L. Davies
;
Stuart N. Peirson
;
José
;
M. Garcí
;
a-Ferná
;
ndez
;
Mark W. Hankins
;
Russell G. Foster
刊名:Current Biology
出版年:2009
6.
Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2
作者:
Suzanne L. Inglis-Broadgate
;
Louise Ocaka
;
Ruby Banerjee
;
Michelle Gaasenbeek
;
J. Paul Chapple
;
Michael E. Cheetham
;
Brian J. Clark
;
David M. Hunt and
Stephanie
Halford
刊名:Gene
出版年:2005
7.
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)
作者:
Johnson
;
Samantha
;
Halford
;
Stephanie
;
Morris
;
Alex G.
;
Patel
;
Reshma J.
;
Wilkie
;
Susan E.
;
et. al.
关键词:
Retina
;
Cone-rod dystrophy
;
Alternative splicing
;
Synaptic protein
刊名:Genomics
出版年:2003
8.
Genomic Organization of Human CDS2 and Evaluation as a Candidate Gene for Corneal Hereditary Endothelial Dystrophy 2 on Chromosome 20p13
作者:
Halford
;
Stephanie
;
Inglis
;
Suzanne
;
Gwilliam
;
Rhian
;
Spencer
;
Pauline
;
Mohamed
;
Moin
;
Ebenezer
;
Neil D.
;
et. al.
刊名:Experimental Eye Research
出版年:2002
9.
Characterization of a Novel Human Opsin Gene with Wide Tissue Expression and Identification of Embedded and Flanking Genes on Chromosome 1q43
作者:
Halford
;
Stephanie
;
Freedman
;
Melanie S.
;
Bellingham
;
James
;
Inglis
;
Suzanne L.
;
Poopalasundaram
;
Subathra
;
et. al.
刊名:Genomics
出版年:2001
10.
Isolation and Chromosomal Localization of Two Human CDP-diacylglycerol Synthase (CDS) Genes
作者:
Halford
;
Stephanie
;
Dulai
;
Kanwaljit S.
;
Daw
;
Sara C.
;
Fitzgibbon
;
Jude
;
Hunt
;
David M.
刊名:Genomics
出版年:1998
1
2
按检索点细分(12)
作者(12)
按出版年细分(12)
2027年及以后(1)
2017年(1)
2015年(1)
2012年(1)
2009年(1)
2005年(1)
2003年(1)
2002年(1)
2001年(1)
2000年及以前(3)
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
.