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Journal of Medical Genetics|August 1, 1976
Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian familyH Kalmus, D SeedburghJournal of Medical Genetics|May 12, 2000
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing lossL Morlé, M Bozon, N Alloisio, et al.Journal of Medical Genetics|June 30, 2000
Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study GroupB B de Vries, S Mohkamsing, A M van den Ouweland, et al.Journal of Medical Genetics|June 30, 2000
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndromeP J Coucke, P Van Hauwe, L A Everett, et al.Journal of Medical Genetics|July 7, 2000
Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN ampliconM C Frühwald, M S O'Dorisio, L J Rush, et al.Journal of Medical Genetics|July 7, 2000
Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a reviewA Heller, J Seidel, A Hübler, et al.Journal of Medical Genetics|September 1, 1975
Specific chromosome aberrations in ataxia telangiectasiaJ M Oxford, D G Harnden, J M Parrington, et al.Journal of Medical Genetics|September 1, 1975
Homozygous haemoglobin D PunjabC Politis-Tsegos, P Kynoch, A Lang, et al.Journal of Medical Genetics|September 1, 1975
A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signsN Freire-Maia, V A Fortes, L C Pereira, et al.Journal of Medical Genetics|February 5, 2002
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiologyD Morrison, D FitzPatrick, I Hanson, et al.Pageof 649