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Author/Creator Hamel, Ben C J

1. A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region. Issue 2 (1st February 1999)

Authors:
Hamel, Ben C J; Wesseling, Pieter; Renier, Willy O; van den Helm, Bellinda; Ropers, Hans-Hilger; Kremer, Hannie; Mariman, Edwin C M
Journal:
Journal of medical genetics
Issue:
Volume 36:Issue 2(1999)
Page Start:
140
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. Issue 12 (15th October 2011)

Authors:
Willemsen, Marjolein H; Vallès, Astrid; Kirkels, Laurens A M H; Mastebroek, Mathilde; Olde Loohuis, Nikkie; Kos, Aron; Wissink-Lindhout, Willemijn M; de Brouwer, Arjan P M; Nillesen, Willy M; Pfundt, Rolph; Holder-Espinasse, Muriel; Vallée, Louis; Andrieux, Joris; Coppens-Hofman, Marjolein C; Ren...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 12(2011)
Page Start:
810
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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