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Clinical Radiology|May 19, 1998
Radiological malformations of the ear in Pendred syndromeP D Phelps, R A Coffey, R C Trembath, et al.Nature Genetics|November 14, 1997
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivationR M Plenge, B D Hendrich, C Schwartz, et al.Clinical Dysmorphology|April 1, 1995
Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndromeI K Temple, D M Eccles, R M Winter, et al.Lancet (London, England)|November 24, 1999
Subtle chromosomal rearrangements in children with unexplained mental retardationS J Knight, R Regan, A Nicod, et al.Clinical Genetics|January 10, 2001
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndromeB B de Vries, M Bitner-Glindzicz, S J Knight, et al.Human Molecular Genetics|August 1, 1994
Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2C S Rose, A A King, D Summers, et al.American Journal of Medical Genetics|October 1, 1993
Mesomelic limb shortness: a previously unreported autosomal recessive typeW Reardon, C M Hall, S Slaney, et al.American Journal of Medical Genetics|November 1, 1993
Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22P Cullen, C S Rodgers, D F Callen, et al.Nature Genetics|February 1, 1995
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypesP Rutland, L J Pulleyn, W Reardon, et al.Diabetologia|April 1, 1985
Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11G A Hitman, A C Tarn, R M Winter, et al.Pageof 23