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Clinical Dysmorphology|May 29, 2000
Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?Y Hilhorst-Hofstee, N Shah, D Atherton, et al.Clinical Dysmorphology|January 1, 1995
The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)W Reardon, R M Winter, L T Smith, et al.American Journal of Medical Genetics|October 1, 1994
New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instabilityW Reardon, C M Hall, D G Shaw, et al.Lancet (London, England)|July 7, 1984
A clinically useful DNA probe closely linked to haemophilia AK Harper, R M Winter, M E Pembrey, et al.Journal of Medical Genetics|March 1, 1995
Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further familiesA O Wilkie, S P Yang, D Summers, et al.Journal of Medical Genetics|April 1, 1995
Alagille syndrome: family studiesF V Elmslie, A J Vivian, H Gardiner, et al.Clinical Dysmorphology|June 20, 2002
Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?A F Brady, R M Winter, L C Wilson, et al.Nature Genetics|February 1, 1995
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardationJ Flint, A O Wilkie, V J Buckle, et al.Clinical Science (London, England : 1979)|April 1, 1984
Polymorphisms in the 5'-flanking region of the insulin gene and non-insulin-dependent diabetesG A Hitman, N I Jowett, L G Williams, et al.Pageof 19