Publications by authors named "Sonja A de Munnik"

14Publications

Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.

Haemophilia 2019 Jan 15;25(1):127-135. Epub 2018 Nov 15.

Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1111/hae.13638
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http://dx.doi.org/10.1111/hae.13638DOI Listing
January 2019

Meier-Gorlin syndrome.

Orphanet J Rare Dis 2015 Sep 17;10:114. Epub 2015 Sep 17.

Department of Human Genetics 836, Institute for Genetic and Metabolic Disease, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0322-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574002PMC
September 2015

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

Eur J Hum Genet 2014 Jun 6;22(6):844-6. Epub 2013 Nov 6.

Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023223PMC
June 2014