Roel Hordijk

Roel Hordijk

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Roel Hordijk

Roel Hordijk

Publications by authors named "Roel Hordijk"

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A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

Eur J Hum Genet 2014 Apr 31;22(4):480-5. Epub 2013 Jul 31.

1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [2] Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [3] Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953899PMC
April 2014

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.

Eur J Med Genet 2010 Sep-Oct;53(5):344-6. Epub 2010 May 27.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212100004
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http://dx.doi.org/10.1016/j.ejmg.2010.05.003DOI Listing
January 2011

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

Cardiovasc Res 2010 Oct 2;88(1):130-9. Epub 2010 Jun 2.

Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/cvr/cvq178DOI Listing
October 2010

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

Eur J Med Genet 2009 Mar-Jun;52(2-3):116-9

Department of Genetics, CB50, University Medical Centre Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2009.01.005DOI Listing
September 2009

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X).

Am J Med Genet A 2005 Sep;137A(3):313-22

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

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http://dx.doi.org/10.1002/ajmg.a.30876DOI Listing
September 2005

Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome.

Am J Med Genet A 2005 Aug;137(1):77-80

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

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http://dx.doi.org/10.1002/ajmg.a.30863DOI Listing
August 2005