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Journal of Medical Genetics|July 1, 1989
Unknown syndrome: Noonan-like craniofacial features, digital anomalies, and premature birthR C Shepherd, D R Goudie, J L TolmieArchives of Disease in Childhood|May 1, 1991
Genetic aspects of admissions to a paediatric intensive care unitD R FitzPatrick, C H Skeoch, J L TolmieJournal of Mass Spectrometry : JMS|February 5, 1998
Mass spectrometry and the age of the proteomeJ R YatesArchives of Disease in Childhood|November 26, 1999
Towards earlier diagnosis of 22q11 deletionsE S Tobias, N Morrison, M L Whiteford, et al.Journal of Medical Genetics|November 1, 1995
The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)J L Tolmie, P Shillito, R Hughes-Benzie, et al.American Journal of Medical Genetics|October 26, 2002
Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndromeS K Joss, W Paterson, M D C Donaldson, et al.Eye (London, England)|January 1, 1988
A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcificationJ L Tolmie, B H Browne, P M McGettrick, et al.Pageof 56