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Author/Creator Nillesen, Willy

1. A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability. (30th March 2014)

Authors:
Zada, Almira; Mundhofir, Farmaditya E. P.; Pfundt, Rolph; Leijsten, Nico; Nillesen, Willy; Faradz, Sultana M. H.; de Leeuw, Nicole
Other Names:
López Ginés C. Academic Editor.; Perez de Nanclares G. Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2014(2014)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. Issue 1 (December 2016)

Authors:
Stevens, Servi; van Essen, Anthonie; van Ravenswaaij, Conny; Elias, Abdallah; Haven, Jaclyn; Lelieveld, Stefan; Pfundt, Rolph; Nillesen, Willy; Yntema, Helger; van Roozendaal, Kees; Stegmann, Alexander; Gilissen, Christian; Brunner, Han
Journal:
Genome medicine
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

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