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Archives of Disease in Childhood|January 6, 1999
Audiological abnormalities in the Klippel-Feil syndromeJ M McGaughran, P Kuna, V DasClinical Dysmorphology|October 23, 2001
Precocious puberty, endometriosis, skeletal anomalies and mild hearing loss: a new autosomal dominant syndrome?J M McGaughran, D A Price, B A KerrJournal of Paediatrics and Child Health|July 22, 2004
Hereditary pancreatitis in a family of Aboriginal descentJ M McGaughran, R Kimble, J Upton, et al.European Journal of Human Genetics : EJHG|May 30, 2003
Mutations in PAX1 may be associated with Klippel-Feil syndromeJ M McGaughran, A Oates, D Donnai, et al.American Journal of Medical Genetics|September 11, 1995
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrenceE M Rosser, A R Wilkinson, J A Hurst, et al.Journal of Medical Genetics|January 1, 1996
Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patientsJ M McGaughran, L Gaunt, J Dore, et al.American Journal of Medical Genetics|April 10, 1995
Prenatal diagnosis of Smith-Lemli-Opitz syndromeJ M McGaughran, P T Clayton, K A Mills, et al.Journal of Medical Genetics|April 16, 1999
A clinical study of type 1 neurofibromatosis in north west EnglandJ M McGaughran, D I Harris, D Donnai, et al.Pageof 1