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American Journal of Human Genetics|June 1, 1993
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophyH G Harley, S A Rundle, J C MacMillan, et al.European Journal of Pediatrics|December 14, 1999
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two familiesJ Wang, L Spitz, R Hayward, et al.Genomics|December 1, 1992
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11W J Kimberling, C G Möller, S Davenport, et al.Neurology|August 8, 2007
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)C R Fertleman, C D Ferrie, J Aicardi, et al.European Journal of Human Genetics : EJHG|January 1, 1996
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locusL J Pulleyn, W Reardon, D Wilkes, et al.American Journal of Human Genetics|July 1, 1992
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)I Bach, H G Brunner, P Beighton, et al.Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|February 17, 2005
Outbreak of listeriosis among Mexican immigrants as a result of consumption of illicitly produced Mexican-style cheesePia D M MacDonald, Robert E Whitwam, Jackie D Boggs, et al.Journal of Medical Genetics|January 3, 2001
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing lossM J Houseman, L A Ellis, A Pagnamenta, et al.Journal of Medical Genetics|August 1, 1997
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosisW Reardon, D Wilkes, P Rutland, et al.Journal of Medical Genetics|June 30, 2000
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndromeP J Coucke, P Van Hauwe, L A Everett, et al.Pageof 16