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内部出版物
CNKI学位论文(33)
知网期刊论文(7)
在“
Elsevier电子期刊
”中,
命中:
8
条,耗时:0.0119937 秒
在所有数据库中总计命中:
40
条
1.
Duplications of SLC1A3: Associated with ADHD and autism
作者:
Claudia J.M. van Amen-Hellebrekers
;
Sandra Jansen
;
Rolph Pfundt
;
Janneke H. Schuurs-Hoeijmakers
;
David A. Koolen
;
Carlo
L.
Marcelis
;
Nicole de Leeuw
;
Bert B.A. de Vries
;
bert.devries@radboudumc.nl" class="auth_mail" title="E-mail the corresponding author
关键词:
Duplication 5p13.2
;
Autism
;
ADHD
;
SLC1A3
刊名:European Journal of Medical Genetics
出版年:2016
2.
MYOCARDIAL EDEMA ASSESSED WITH T2-WEIGHTED CMR IMAGING AND SUDDEN CARDIAC DEATH RISK IN PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY
作者:
Frank Gommans
;
Etienne Cramer
;
Jeannette Bakker
;
Michelle Michels
;
Hendrik-Jan Dieker
;
Michael Fouraux
;
Carlo
Marcelis
;
Janneke Timmermans
;
Freek Verheugt
;
Marc Brouwer
;
Marcel Kofflard
刊名:Journal of the American College of Cardiology
出版年:2016
3.
Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations
作者:
Alexa M.C. Vermeer
;
MD
;
Elisabeth M. Lodder
;
PhD
;
E.M.Lodder@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author
;
Dierk Thomas
;
MD
;
Floor A.M. Duijkers
;
MD
;
PhD
;
Carlo
Marcelis
;
MD
;
PhD
;
Edwin O.F. van Gorselen
;
MD
;
Philipp Fortner
;
MD
;
Sebastian J. Buss
;
MD
;
Derliz Mereles
;
MD
;
Hugo A. Katus
;
MD
;
Arthur A.M. Wilde
;
MD
;
PhD
;
Connie R. Bezzina
;
PhD
;
S. Matthijs Boekholdt
;
MD
;
PhD
;
Patrick A. Schweizer
;
MD
;
Imke Christiaans
;
MD
;
PhD
刊名:Journal of the American College of Cardiology
出版年:2016
4.
Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12
作者:
Robert Smigiel
;
Carlo
Marcelis
;
Dariusz Patkowski
;
Nicole de Leeuw
;
Damian Bednarczyk
;
Ewa Barg
;
Katarzyna Mascianica
;
M. Maria Sasiadek
;
Han Brunner
关键词:
Oesophageal atresia with tracheoesophageal fistula
;
Anal atresia
;
VATER association
;
17q12 microduplication
;
SNP array
刊名:European Journal of Medical Genetics
出版年:January, 2014
5.
First results of a European multi-center registry of patients with anorectal malformations
作者:
Ivo de Blaauw
;
Charlotte H.W. Wijers
;
Eberhard Schmiedeke
;
Stefan Holl
;
-Cunz
;
Piergiorgio Gamba
;
Carlo
L.M.
Marcelis
;
Heiko Reutter
;
Dalia Aminoff
;
Muriel Schipper
;
Nicole Schwarzer
;
Sabine Grasshoff-Derr
;
Paola Midrio
;
Ekkehart Jenetzky
;
Iris A.L.M. van Rooij
关键词:
Anorectal malformations
;
Environmental risk factors
;
Etiology
;
Associated anomalies
刊名:Journal of Pediatric Surgery
出版年:December, 2013
6.
Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy
作者:
Joyce Geelen
;
Rolph Pfundt
;
Judith Meijer
;
Frans W. Verheijen
;
Andre B.P. van Kuilenburg
;
Adilia Warris
;
Carlo
Marcelis
刊名:Journal of Allergy and Clinical Immunology
出版年:2013
7.
The Currarino triad: the variable expression
作者:
Pieter J. Emans
;
Gauke Kootstra
;
Carlo
L.M.
Marcelis
;
Emile A.M. Beuls
;
L.W. Ernest van Heurn
刊名:Journal of Pediatric Surgery
出版年:2005
8.
Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy
作者:
Roselie J. Jongbloed
;
Carlo
L.
Marcelis
;
Pieter A. Doevendans
;
Judith M. Schmeitz-Mulkens
;
Willem G. Van Dockum
;
Joep P. Geraedts
;
Hubert J. Smeets
关键词:
AHA/ACC
;
Conference Proceedings
;
myocardial infarction
;
acute
;
diagnosis
;
treatment
刊名:Journal of the American College of Cardiology
出版年:2003
1
按检索点细分(8)
作者(8)
按出版年细分(8)
2027年及以后(2)
2016年(3)
2013年(1)
2005年(1)
2003年(1)
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