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CNKI学位论文(1)
在“
Elsevier电子期刊
”中,
命中:
7
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1
条
1.
Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome
作者:
Martine Isabel Boyle
;
Cathrine Jespersgaard
;
Lusine Nazaryan
;
Kirstine
Ravn
;
Karen Brø
;
ndum-Nielsen
;
Anne-Marie Bisgaard
;
Zeynep Tü
;
mer
;
Zeynep.tumer@regionh.dk" class="auth_mail" title="E-mail the corresponding author
关键词:
ADHD
;
attention deficit hyperactivity disorder
;
CDCA5
;
cell division cycle-associated protein 5
;
CDG
;
congenital disorder of glycosylation
;
CdLS
;
Cornelia de Lange syndrome
;
GERD
;
gastroesophageal reflux disease
;
HDAC8
;
histone deacetylase 8
;
HRAS
;
v-ha-ras harvey rat sarcoma viral oncogene homolog
;
HRASLS2
;
HRAS-like tumor suppressor 2
;
HRASLS3
;
HRAS-like tumor suppressor 5
;
HRASLS5
;
HRAS-like tumor suppressor 5
;
LGALS12
;
lectin
;
galactoside-binding
;
soluble
;
12
;
MEN1
;
multiple endocrine neopla
刊名:Gene
出版年:2015
2.
Design of the liraglutide effect and action in diabetes: Evaluation of cardiovascular outcome results (LEADER) trial
作者:
Steven P. Marso
;
Neil R. Poulter
;
Steven E. Nissen
;
Michael A. Nauck
;
Bernard Zinman
;
Gilbert H. Daniels
;
Stuart Pocock
;
William M. Steinberg
;
Richard M. Bergenstal
;
Johannes F.E. Mann
;
Lasse Steen
Ravn
;
Kirstine
Brown Fr
;
sen
;
Alan C. Moses
;
John B. Buse
刊名:American Heart Journal
出版年:November, 2013
3.
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature
作者:
Kerstin Becker
;
Nataliya Di Donato
;
Muriel Holder-Espinasse
;
Joris Andrieux
;
Jean-Marie Cuisset
;
Louis Vall¨¦e
;
Ghislaine Plessis
;
Nolwenn Jean
;
Bruno Delobel
;
Ann-Charlotte Thuresson
;
G?ran Anner¨¦n
;
Kirstine
Ravn
;
Zeynep T¨¹mer
;
Sigrid Tinschert
;
Evelin Schrock
;
Aia Elise J?nch
;
Karl Hackmann
关键词:
6q14 microdeletion syndrome
;
Intellectual disability
;
Mental retardation
;
Array CGH
刊名:European Journal of Medical Genetics
出版年:2012
4.
Characterizations of a loss-of-function mutation in the Kir3.4 channel subunit
作者:
Kirstine
Calloe
;
Lasse Steen
Ravn
;
Nicole Schmitt
;
Jin Liang Sui
;
Morten Duno
;
Stig Haunso
;
Morten Grunnet
;
Jesper Hastrup Svendsen
;
Soren-Peter Olesen
关键词:
Kir3.4
;
GIRK
;
I
KACh
;
Gβ
;
γ
;
Atrial fibrillation
;
Arrhythmia
刊名:Biochemical and Biophysical Research Communications
出版年:2007
5.
A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in
MECP2
作者:
Nielsen
;
Jytte Bieber
;
Ravn
;
Kirstine
;
Schwartz
;
Marianne
关键词:
Rett syndrome
;
MECP2
;
Mutation
;
Elderly woman
刊名:Brain and Development
出版年:2001
6.
High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase
作者:
Kirstine
Ravn
;
Maja Chloupkova
;
Ernst Christensen
;
Niels Jacob Br
t ;
Henrik Simonsen
;
Jan P. Kraus
;
Inge Merete Nielsen
;
Flemming Skovby
;
Marianne Schwartz
刊名:The American Journal of Human Genetics
出版年:2000
7.
Changes in the Carboxyl Terminus of the β Subunit of Human Propionyl-CoA Carboxylase Affect the Oligomer Assembly and Catalysis: Expression and Characterization of Seven Patient-Derived Mutant Fo
作者:
Chloupková
;
Maja
;
Ravn
;
Kirstine
;
Schwartz
;
Marianne
;
Kraus
;
Jan P.
刊名:Molecular Genetics and Metabolism
出版年:2000
1
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作者(7)
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2027年及以后(1)
2015年(1)
2012年(1)
2007年(1)
2001年(1)
2000年(2)
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