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Author/Creator van Bon, Bregje W M

1. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. Issue 8 (4th May 2013)

Authors:
Willemsen, Marjolein H; Nijhof, Bonnie; Fenckova, Michaela; Nillesen, Willy M; Bongers, Ernie M H F; Castells-Nobau, Anna; Asztalos, Lenke; Viragh, Erika; van Bon, Bregje W M; Tezel, Emre; Veltman, Joris A; Brunner, Han G; de Vries, Bert B A; de Ligt, Joep; Yntema, Helger G; van Bokhoven, Hans; I...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 8(2013)
Page Start:
507
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. Issue 12 (11th October 2013)

Authors:
Schuurs-Hoeijmakers, Janneke H M; Vulto-van Silfhout, Anneke T; Vissers, Lisenka E L M; van de Vondervoort, Ilse I G M; van Bon, Bregje W M; de Ligt, Joep; Gilissen, Christian; Hehir-Kwa, Jayne Y; Neveling, Kornelia; del Rosario, Marisol; Hira, Gausiya; Reitano, Santina; Vitello, Aurelio; Failla,...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 12(2013)
Page Start:
802
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. Issue 3 (24th February 2012)

Authors:
Willemsen, Marjolein H; Vissers, Lisenka E L; Willemsen, Michèl A A P; van Bon, Bregje W M; Kroes, Thessa; de Ligt, Joep; de Vries, Bert B; Schoots, Jeroen; Lugtenberg, Dorien; Hamel, Ben C J; van Bokhoven, Hans; Brunner, Han G; Veltman, Joris A; Kleefstra, Tjitske
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 3(2012)
Page Start:
179
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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