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Clinical Genetics|January 29, 2013
The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008)M C van Rij, P A M de Koning Gans, M J van Belzen, et al.
Journal of Medical Genetics|June 28, 2005
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parentsC Rosenberg, J Knijnenburg, E Bakker, et al.
Clinical Genetics|May 22, 2010
X-chromosome duplications in males with mental retardation: pathogenic or benign variants?A C J Gijsbers, N S den Hollander, A T J M Helderman-van de Enden, et al.
Journal of Medical Genetics|August 30, 2008
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsC Zweier, H Sticht, E K Bijlsma, et al.
Clinical Genetics|January 29, 2013
Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008M C van Rij, P A M de Koning Gans, C M Aalfs, et al.
Clinical Genetics|August 2, 2011
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1BC Halgren, S Kjaergaard, M Bak, et al.
European Journal of Medical Genetics|April 24, 2012
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationE K Bijlsma, A Collins, F T Papa, et al.
European Journal of Medical Genetics|March 25, 2009
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individualsE K Bijlsma, A C J Gijsbers, J H M Schuurs-Hoeijmakers, et al.
Journal of Intellectual Disability Research : JIDR|October 9, 2020
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromesP A Mulder, I D C van Balkom, A M Landlust, et al.
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