Marja Wessels

Marja Wessels

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Marja Wessels

Marja Wessels

Publications by authors named "Marja Wessels"

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56Publications

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Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.

Circ Genom Precis Med 2019 Mar;12(3):e002395

Department of Clinical Genetics (S.D., M.A. v. S, M.L., M.W.W., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1161/CIRCGEN.118.002395DOI Listing
March 2019

Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.

Circ Genom Precis Med 2018 12;11(12):e002397

Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.M.A.V., M.v.d.B., S.K., I.M.B.H.v.d.L., M.A.v.S., M.W.W.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002397DOI Listing
December 2018

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

Am J Med Genet A 2016 12 19;170(12):3133-3137. Epub 2016 Sep 19.

Division of Medical and Molecular Genetics, King's College London, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37946DOI Listing
December 2016

Quadricuspid aortic valve and anomalous systemic venous connection in a patient with cat-eye syndrome.

Circulation 2015 Mar;131(13):1225-7

From Department of Cardiology, Thoraxcenter (J.J.B., J.A.A.E.C., J.R.-H.), Department of Radiology (M.O.), Department of Cardiothoracic Surgery (P.v.d.W.), and Department of Clinical Genetics (M.W.), Erasmus MC, Rotterdam, The Netherlands; and Department of Cardiology, St. Anna Ziekenhuis, Geldrop, The Netherlands (P.P.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.114.013290DOI Listing
March 2015

[Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?].

Ned Tijdschr Geneeskd 2013 ;157(21):A5588

Erasmus MC, Afd. Cardiologie, Rotterdam, the Netherlands.

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July 2013

A de novo GLI3 mutation in a patient with acrocallosal syndrome.

Am J Med Genet A 2013 Jun 30;161A(6):1394-400. Epub 2013 Apr 30.

Department of Obstetrics and Gynecology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35874DOI Listing
June 2013

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.

Am J Med Genet A 2009 Dec;149A(12):2700-5

The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital and Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.33095
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http://dx.doi.org/10.1002/ajmg.a.33095DOI Listing
December 2009

Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.

Clin Genet 2008 Jul 8;74(1):16-9. Epub 2008 Apr 8.

Department of Clinical Genetics, Erasmus Medical Center, Dr. Molewaterplein 50, 3015 GE, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1111/j.1399-0004.2008.00985.xDOI Listing
July 2008

Candidate gene analysis in three families with acilia syndrome.

Am J Med Genet A 2008 Jul;146A(13):1765-7

Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32340DOI Listing
July 2008

Three new families with arterial tortuosity syndrome.

Am J Med Genet A 2004 Dec;131(2):134-43

Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30272DOI Listing
December 2004

Prenatal diagnosis of boomerang dysplasia.

Am J Med Genet A 2003 Oct;122A(2):148-54

Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.20239DOI Listing
October 2003

Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.

Am J Med Genet A 2003 Jul;120A(1):97-104

Department of Clinical Genetics, Erasmus University and University Hospital, Westzeedijk 112, 3016 AH Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.20202DOI Listing
July 2003

Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome.

Prenat Diagn 2003 Mar;23(3):239-42

Department of Clinical Genetics, Erasmus University Medical Centre, Westzeedijk 112, 3016 AH Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/pd.551DOI Listing
March 2003

Images in clinical medicine. Chondrodysplasia punctata.

N Engl J Med 2002 Jul;347(2):110

University Hospital Rotterdam, 3015 GD Rotterdam, The Netherlands.

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http://dx.doi.org/10.1056/NEJMicm010895DOI Listing
July 2002

Kabuki syndrome: a review study of three hundred patients.

Clin Dysmorphol 2002 Apr;11(2):95-102

Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.

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April 2002