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内部出版物
CNKI学位论文(2)
在“
Elsevier电子期刊
”中,
命中:
30
条,耗时:小于0.01 秒
在所有数据库中总计命中:
2
条
1.
Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease
作者:
Barbara Sjouke
;
MD
a
;
b.sjouke@amc.uva.nl
;
Joep
C.
Defesche
;
PhD
b
;
Merel L. Hartgers
;
MD
a
;
Albert Wiegman
;
MD
;
PhD
c
;
Jeanine E. Roeters van Lennep
;
MD
;
PhD
d
;
John J. Kastelein
;
MD
;
PhD
a
;
G. Kees Hovingh
;
MD
;
PhD
a
关键词:
Autosomal dominant hypercholesterolemia
;
Double heterozygous
;
Homozygous
;
Phenotype
;
Familial hypercholesterolemia
刊名:Journal of Clinical Lipidology
出版年:2016
2.
Children with hypercholesterolemia of unknown cause: Value of genetic risk scores
作者:
Barbara Sjouke
;
MD
a
;
b.sjouke@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author
;
Michael W.T. Tanck
;
PhD
b
;
Sigrid W. Fouchier
;
PhD
a
;
c
;
d
;
Joep
C.
Defesche
;
PhD
c
;
Barbara A. Hutten
;
PhD
b
;
Albert Wiegman
;
MD
;
PhD
e
;
John J.P. Kastelein
;
MD
;
PhD
a
;
G. Kees Hovingh
;
MD
;
PhD
a
关键词:
Familial hypercholesterolemia
;
Polygenic hypercholesterolemia
;
Genetic risk scores
刊名:Journal of Clinical Lipidology
出版年:2016
3.
Ten years of lipoprotein apheresis for familial hypercholesterolemia in Malaysia: A creative approach by a cardiologist in a developing country
作者:
Kah Lin Khoo
;
MD
;
FRCP
;
FACC
;
FESC
;
FCCP
a
;
b
;
1
;
2
;
Michael M. Page
;
BPharm
;
MBBS(Hons)
c
;
d
;
1
;
Yin Mei Liew
;
MBBS
;
FAMM
;
FRCP
a
;
Joep
C.
Defesche
;
PhD
e
;
Gerald F. Watts
;
DSc
;
MD
;
PhD
;
FRCP
;
FRACP
c
;
f
;
gerald.watts@uwa.edu.au" class="auth_mail" title="E-mail the corresponding author
关键词:
Familial hypercholesterolemia
;
Malaysia
;
Coronary artery disease
;
Lipoprotein apheresis
;
Service delivery
刊名:Journal of Clinical Lipidology
出版年:2016
4.
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation
作者:
Gerald F. Watts
;
Samuel Gidding
;
Anthony S. Wierzbicki
;
Peter P. Toth
;
Rodrigo Alonso
;
W. Virgil Brown
;
Eric Bruckert
;
Joep
Defesche
;
Khoo Kah Lin
;
Michael Livingston
;
Pedro Mata
;
Klaus G. Parhofer
;
Frederick J. Raal
;
Raul D. Santos
;
Eric J.G. Sijbr
s ;
William G. Simpson
;
David R. Sullivan
;
Andrey V. Susekov
;
Brian Tomlinson
;
Albert Wiegman
;
Shizuya Yamashita
;
et al.
关键词:
Familial hypercholesterolaemia
;
Screening
;
Diagnosis
;
Assessment
;
Treatment
;
Models of care
刊名:International Journal of Cardiology
出版年:15 February, 2014
5.
HOMOZYGOUS AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA IN THE NETHERLANDS: PREVALENCE, GENOTYPE-PHENOTYPE RELATIONSHIP AND CLINICAL OUTCOME
作者:
Barbara Sjouke
;
Dorothe Kusters
;
Iris Kindt
;
Joost Besseling
;
Joep
Defesche
;
Eric Sijbrands
;
Jeanine Roeters van Lennep
;
Anton Stalenhoef
;
Albert Wiegman
;
Jacqueline de Graaf
;
Sigrid Fouchier
;
John Kastelein
;
G Kees Hovingh
刊名:Journal of the American College of Cardiology
出版年:1 April, 2014
6.
Defining the challenges of FH Screening for familial hypercholesterolemia
作者:
Joep
C.
Defesche
关键词:
Familial hypercholesterolemia
;
Genetic cascade screening
;
Prevention
刊名:Journal of Clinical Lipidology
出版年:2010
7.
Arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene and coronary heart disease risk in familial hypercholesterolemia
作者:
Jeroen B. van der Net
;
Jorie Versmissen
;
Danië
;
lla M. Oosterveer
;
Joep
C.
Defesche
;
Mojgan Yazdanpanah
;
Bradley E. Aouizerat
;
Ewout W. Steyerberg
;
Mary J. Malloy
;
Clive R. Pullinger
;
John P. Kane
关键词:
ALOX5AP
;
FLAP
;
Lipoxygenase
;
Genetics
;
Coronary heart disease
;
Familial hypercholesterolemia
刊名:Atherosclerosis
出版年:2009
8.
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
作者:
Rodrigo Alonso
;
Joep
C.
Defesche
;
Diego Tejedor
;
Sergio Castillo
;
Marianne Stef
;
Nelva Mata
;
Pilar Gomez-Enterria
;
Ceferino Martinez-Faedo
;
Lluis Forga
;
Pedro Mata
关键词:
Familial hypercholesterolemia
;
Low-density lipoprotein receptor
;
DNA micro array
;
Premature atherosclerosis
;
Genetic screening
刊名:Clinical Biochemistry
出版年:2009
9.
5-Lipoxygenase activating protein (ALOX5AP) gene variants associate with the presence of xanthomas in familial hypercholesterolemia
作者:
Danië
;
lla M. Oosterveer
;
Jorie Versmissen
;
Mojgan Yazdanpanah
;
Jeroen B. van der Net
;
Joep
C.
Defesche
;
John J.P. Kastelein
;
Eric J.G. Sijbr
s
关键词:
ALOX5AP
;
FLAP
;
Lipoxygenase
;
Xanthoma
;
Familial hypercholesterolemia
;
Coronary heart disease
刊名:Atherosclerosis
出版年:2009
10.
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
作者:
Ø
;
ystein L. Holla
;
Sigve Nakken
;
Morten Mattingsdal
;
Trine Ranheim
;
Knut Erik Berge
;
Joep
C.
Defesche
;
Trond P. Leren
关键词:
Bioinformatics
;
Familial hypercholesterolemia
;
Intron
;
LDL receptor
;
mRNA
;
Mutation
;
Splicing
刊名:Molecular Genetics and Metabolism
出版年:2009
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