Publications by authors named "Marije E Meuwissen"

15Publications

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.

Am J Med Genet A 2020 Nov 28. Epub 2020 Nov 28.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.61988DOI Listing
November 2020

PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.

Am J Med Genet A 2020 03 20;182(3):591-594. Epub 2019 Dec 20.

Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.61463DOI Listing
March 2020

Thoracic dimples and dysmorphic features associated with a partial duplication and triplication of chromosome 12q24.

Clin Dysmorphol 2016 Oct;25(4):167-73

Departments of aPediatrics bMedical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000141DOI Listing
October 2016

ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.

Am J Med Genet A 2013 Jun 23;161A(6):1376-80. Epub 2013 Apr 23.

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

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http://dx.doi.org/10.1002/ajmg.a.35858DOI Listing
June 2013

Neurological findings in incontinentia pigmenti; a review.

Eur J Med Genet 2012 May 4;55(5):323-31. Epub 2012 May 4.

Dept. of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 50, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2012.04.007DOI Listing
May 2012