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Genomics|June 18, 2003
CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorderAnnemieke J M H Verkerk, Carol A Mathews, Marijke Joosse, et al.Human Genetics|September 15, 2000
Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnosticsN Lambiris, H Peters, R Bollmann, et al.American Journal of Medical Genetics|November 15, 1993
On the variability of the Brachmann-de Lange syndrome in seven patientsJ G Leroy, J Persijn, V Van de Weghe, et al.Plos One|November 26, 2009
Generation and characterization of FMR1 knockout zebrafishMarjo J den Broeder, Herma van der Linde, Judith R Brouwer, et al.Journal of Neurochemistry|November 19, 2008
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndromeJudith R Brouwer, Karin Huizer, Lies-Anne Severijnen, et al.Neurogenetics|June 14, 2011
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in SardiniaMarialuisa Quadri, Giovanni Cossu, Valeria Saddi, et al.The Biochemical Journal|February 1, 1993
The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type IIM M Hermans, E de Graaff, M A Kroos, et al.American Journal of Human Genetics|March 6, 2008
A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventionsA Cecile J W Janssens, Marta Gwinn, Linda A Bradley, et al.Epilepsia|January 22, 2000
Audiogenic seizures susceptibility in transgenic mice with fragile X syndromeS A Musumeci, P Bosco, G Calabrese, et al.American Journal of Human Genetics|August 1, 1995
Linkage studies on Gilles de la Tourette syndrome: what is the strategy of choice?P Heutink, B J van de Wetering, A J Pakstis, et al.Pageof 51