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内部出版物
Springer电子图书(1)
CNKI学位论文(9)
知网期刊论文(5)
在“
Elsevier电子期刊
”中,
命中:
20
条,耗时:小于0.01 秒
在所有数据库中总计命中:
15
条
1.
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study
作者:
Elisa De Franco
;
PhD
a
;
Sarah E Flanagan
;
PhD
a
;
Jayne AL Houghton
;
PhD
a
;
Hana Lango Allen
;
PhD
a
;
Deborah JG Mackay
;
PhD
b
;
c
;
d
;
Prof I Karen Temple
;
MD
b
;
c
;
Prof
Sian
Ellard
;
PhD
a
;
Prof Andrew T Hattersley
;
DM
a
;
A.T.Hattersley@exeter.ac.uk" class="auth_mail" title="E-mail the corresponding author
刊名:The Lancet
出版年:2015
2.
Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man
作者:
Sarah聽E. Flanagan
;
Elisa De聽Franco
;
Hana Lango聽Allen
;
Michele Zerah
;
Majedah聽M. Abdul-Rasoul
;
Julie聽A. Edge
;
Helen Stewart
;
Elham Alamiri
;
Khalid Hussain
;
Sam Wallis
;
Liat de聽Vries
;
Oscar Rubio-Cabezas
;
Jayne聽A.L. Houghton
;
Emma聽L. Edghill
;
Ann-Marie Patch
;
Sian
Ellard
;
Andrew聽T. Hattersley
刊名:Cell Metabolism
出版年:7 January, 2014
3.
Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation
作者:
Sarah E. Flanagan
1
;
Weijia Xie
1
;
Richard Caswell
1
;
Annet Damhuis
2
;
Christine Vianey-Saban
3
;
Teoman Akcay
4
;
Feyza Darendeliler
5
;
Firdevs Bas
5
;
Ayla Guven
6
;
Zeynep Siklar
7
;
Gonul Ocal
7
;
Merih Berberoglu
7
;
Nuala Murphy
8
;
Maureen O&rsquo
;
Sullivan
9
;
10
;
Andrew Green
11
;
12
;
Peter E. Clayton
13
;
Indraneel Banerjee
13
;
14
;
Peter T. Clayton
15
;
Khalid Hussain
16
;
17
;
Michael N. Weedon
1
;
Sian
Ellard
1
;
2
;
sian
.
ellard
@nhs.net
刊名:The American Journal of Human Genetics
出版年:2013
4.
Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children
作者:
Cresio Alves
;
Sarah E. Flanagan
;
Sian
Ellard
;
Deborah J. Mackay
关键词:
Transient neonatal diabetes mellitus
;
Newborn
;
Uniparental isodisomy
刊名:Diabetes Research and Clinical Practice
出版年:2012
5.
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1
作者:
Amirreza Haghighi
;
Maryam Razzaghy-Azar
;
Ali Talea
;
Mahnaz Sadeghian
;
Sian
Ellard
;
Alireza Haghighi
关键词:
Congenital generalized lipodystrophy
;
CGL
;
Berardinelli-Seip syndrome
;
AGPAT2
刊名:European Journal of Medical Genetics
出版年:2012
6.
Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease
作者:
Michael
;
N. Weedon
1
;
Robert Hastings
2
;
Richard Caswell
1
;
Weijia Xie
1
;
Konrad Paszkiewicz
3
;
Thalia Antoniadi
4
;
Maggie Williams
4
;
Cath King
2
;
Lynn Greenhalgh
2
;
Ruth Newbury-Ecob
2
;
Sian
Ellard
1
;
sian
.
ellard
@rdeft.nhs.uk" rel="nofollow
刊名:The American Journal of Human Genetics
出版年:2011
7.
Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease
作者:
Michael
;
N. Weedon
1
;
Robert Hastings
2
;
Richard Caswell
1
;
Weijia Xie
1
;
Konrad Paszkiewicz
3
;
Thalia Antoniadi
4
;
Maggie Williams
4
;
Cath King
2
;
Lynn Greenhalgh
2
;
Ruth Newbury-Ecob
2
;
Sian
Ellard
1
;
sian
.
ellard
@rdeft.nhs.uk"" rel=""nofollow
刊名:The American Journal of Human Genetics
出版年:2011
8.
Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations
作者:
Richard A. Oram
;
Emma L. Edghill
;
Jenny Blackman
;
Miles J.O. Taylor
;
Tracey Kay
;
Sarah E. Flanagan
;
Ida Ismail-Pratt
;
Sarah M. Creighton
;
Sian
Ellard
;
Andrew T. Hattersley
;
Coralie Bingham
关键词:
abnormality
;
genital malformation
;
HNF1B gene
;
Mü
;
llerian duct abnormality
;
mutation
;
renal tract malformation
;
urogenital adysplasia
;
urogenital tract abnormality
刊名:American Journal of Obstetrics and Gynecology
出版年:2010
9.
P212 Le syndrome de wolcott-Rallison : deux observations marocaines
作者:
Z. Imane
;
S. Amhager
;
N. Bennani
;
A. Balafrej
;
Sian
Ellard
刊名:Diabetes Metabolism
出版年:2010
10.
Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans
作者:
Martijn van de Bunt
;
Emma L. Edghill
;
Khalid Hussain
;
Sian
Ellard
;
Anna L. Gloyn
关键词:
Hypnotic treatment
;
Persistent idiopathic orofacial pain
;
Chronic pain
;
Hypnotic susceptibility
;
Pain diary
;
Psychosocial
;
Coping strategies
;
Catastrophizing
;
Sleep quality
刊名:Molecular Genetics and Metabolism
出版年:2008
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