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Elsevier电子期刊(5)
在“
Elsevier电子期刊
”中,
命中:
5
条,耗时:0.1689166 秒
在所有数据库中总计命中:
5
条
1.
Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity
作者:
Nicole Corsten-Janssen
a
;
Conny M.A.
van
Ravenswaaij
-Arts
a
;
c.m.a.
van
.
ravenswaaij
@umcg.nl"
class
="auth_
mail
"
title
="E-
mail
the
corresponding
author
;
Livia Kapusta
b
;
c
关键词:
Arch vessel anomalies
;
CHARGE syndrome
;
CHD7 gene
;
Feeding problems
;
Congenital heart defects
;
Aberrant subclavian artery
刊名:IJC Heart & Vasculature
出版年:2016
2.
Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts
作者:
Monica T.Y. Wong
;
MD
1
;
t.y.wong@umcg.nl"
class
="auth_
mail
"
title
="E-
mail
the
corresponding
author
;
Conny M.A.
van
Ravenswaaij
-Arts
;
MD
;
PhD
1
;
Craig F. Munns
;
MD
;
PhD
2
;
Peter Hsu
;
MD
;
PhD
3
;
Sam Mehr
;
MD
3
;
Gianni Bocca
;
MD
;
PhD
4
关键词:
glucagon stimulation test
;
low-dose adrenocorticotropin test
;
mortality
刊名:The Journal of Pediatrics
出版年:2016
3.
Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy
作者:
Danique R.M. Vlaskamp
a
;
b
;
d.r.m.vlaskamp@umcg.nl"
class
="auth_
mail
"
title
="E-
mail
the
corresponding
author
;
Patrick Rump
b
;
Petra M.C. Callenbach
a
;
Yvonne J. Vos
b
;
Birgit Sikkema-Raddatz
b
;
Conny M.A.
van
Ravenswaaij
-Arts
b
;
Oebele F. Brouwer
a
关键词:
Myoclonic astatic epilepsy
;
Doose syndrome
;
STX1B
;
Aetiology
;
Genetics
刊名:European Journal of Paediatric Neurology
出版年:2016
4.
A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD)
作者:
Omid Jazayeri
a
;
Xuanzhu Liu
b
;
Cleo C.
van
Diemen
a
;
Willie M. Bakker-
van
Waarde
c
;
Birgit Sikkema-Raddatz
a
;
Richard J. Sinke
a
;
Jianguo Zhang
b
;
Conny M.A.
van
Ravenswaaij
-Arts
a
;
c.m.a.
van
.
ravenswaaij
@umcg.nl"
class
="auth_
mail
"
title
="E-
mail
the
corresponding
author
关键词:
Exome sequencing
;
Familial glucocorticoid deficiency
;
NNT
;
Mutation
;
Review
刊名:European Journal of Medical Genetics
出版年:2015
5.
Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome
作者:
M. Albert Basson
1
;
albert.basson@kcl.ac.uk"
class
="auth_
mail
"
title
="E-
mail
the
corresponding
author
;
Conny
van
Ravenswaaij
-Arts
2
关键词:
CHARGE syndrome
;
CHD7
;
chromatin remodelling
;
congenital disease
;
epigenetic mechanisms
刊名:Trends in Genetics
出版年:2015
1
按检索点细分(5)
作者(5)
按出版年细分(5)
2016年(3)
2015年(2)
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