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The Journal of Bone and Joint Surgery. British Volume|January 1, 1988
Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformityA P Roberts, A N Conner, J L Tolmie, et al.Prenatal Diagnosis|December 17, 1997
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasiaA C Rennie, G Stewart, M Whiteford, et al.Journal of Medical Genetics|January 16, 1998
Dominantly inherited cerebral dysplasia: arachnoid cyst associated with mild mental handicap in a mother and her sonJ L Tolmie, R Day, B Fredericks, et al.The British Journal of Ophthalmology|March 1, 1988
Congenital corneal anaesthesia and the MURCS association: a case reportL Esakowitz, J R YatesEuropean Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 14, 2009
Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: akin to the new MECP2 duplication syndrome?Catherine McWilliam, A Cooke, D Lobo, et al.American Journal of Human Genetics|July 27, 1999
The molecular basis of malonyl-CoA decarboxylase deficiencyD R FitzPatrick, A Hill, J L Tolmie, et al.Journal of Medical Genetics|November 1, 1988
Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant traitJ L Tolmie, D E Wilcox, R McWilliam, et al.American Journal of Medical Genetics|July 1, 1987
Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected childJ L Tolmie, M McNay, J B Stephenson, et al.Prenatal Diagnosis|October 1, 1987
Normal development in two six-year-old boys born after prenatal diagnosis of trisomy 20 mosaicismJ L Tolmie, M E Ferguson-Smith, D Gilmore, et al.Pageof 56