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American Journal of Medical Genetics|July 9, 1999
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric regionH G Yntema, B van den Helm, N V Knoers, et al.American Journal of Medical Genetics|August 18, 2000
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardationT Bienvenu, V des Portes, N McDonell, et al.European Journal of Human Genetics : EJHG|January 1, 1995
Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardationS M van der Maarel, I H Scholten, J A Maat-Kievit, et al.Human Molecular Genetics|July 21, 1998
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitorT Bienvenu, V des Portes, A Saint Martin, et al.American Journal of Human Genetics|March 21, 2000
Familial syndromic esophageal atresia maps to 2p23-p24J Celli, E van Beusekom, R C Hennekam, et al.American Journal of Human Genetics|February 11, 1999
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27H van Bokhoven, M Jung, A P Smits, et al.Clinical Genetics|September 10, 2004
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)T Kleefstra, C E Franken, Y H J M Arens, et al.Genomics|January 25, 2000
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardationH G Yntema, B van den Helm, J Kissing, et al.Journal of Medical Genetics|May 17, 2005
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndromeJ van Reeuwijk, M Janssen, C van den Elzen, et al.Cell Reports|February 9, 2016
ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse FunctionW Ba, M M Selten, J van der Raadt, et al.Pageof 7