British medical genetics conferenceJournal of medical genetics. 1994, Vol 31, Num 2, pp 162-175, issn 0022-2593Conference Proceedings

British medical genetics conferenceJournal of medical genetics. 1995, Vol 32, Num 2, pp 135-155, issn 0022-2593Conference Proceedings

British medical genetics conferenceJournal of medical genetics. 1993, Vol 30, Num 4, pp 332-348, issn 0022-2593Conference Proceedings

Cowden syndromeHANSSEN, A. M. N; FRYNS, J. P.Journal of medical genetics. 1995, Vol 32, Num 2, pp 117-119, issn 0022-2593Conference Paper

DNA analysis of Huntington's disease in southern ChineseCHAN, V; YU, Y. L; CHAN, T. P. T et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 120-124, issn 0022-2593Conference Paper

Recurrence risk for germinal mosaics revisitedVAN DER MEULEN, M. A; VAN DER MEULEN, M. J. P; TE MEERMAN, G. J et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 102-104, issn 0022-2593Conference Paper

Spondyloepimetaphyseal dyspasia with joint laxity (SEMDJL)BEIGHTON, P.Journal of medical genetics. 1994, Vol 31, Num 2, pp 136-140, issn 0022-2593Conference Paper

Hydrocephalus in an infant with trisomy 22FAHMI, F; SCHMERLER, S; HUTCHEON, R. G et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 141-144, issn 0022-2593Conference Paper

Origin of a regressed myotonic dystrophy alleleGIORDANO, M; DE ANGELIS, M. S; MUTANI, R et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 130-132, issn 0022-2593Conference Paper

The molecular basis of genetic dominanceWILKIE, A. O. M.Journal of medical genetics. 1994, Vol 31, Num 2, pp 89-98, issn 0022-2593Conference Paper

Recurrence of Pallister-Hall syndrome in two sibsTHOMAS, H. M; TODD, P. J; HEAF, D et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 145-147, issn 0022-2593Conference Paper

The prenatal exclusion test for Huntington's disease : experience in the west of Scotland, 1986-1993TOLMIE, J. L; DAVIDSON, H. R; MAY, H. M et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 97-101, issn 0022-2593Conference Paper

Acute myeloid leukaemia in a patient with Seckel syndromeHAYANI, A; SUAREZ, C. R; MOLNAR, Z et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 148-149, issn 0022-2593Conference Paper

Association of 1078 del T cystic fibrosis mutation with severe diseaseMOULLIER, P; JEHANNE, M; FEREC, C et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 159-161, issn 0022-2593Conference Paper

Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities : counselling pitfalls in the Romano-Ward syndromeREARDON, W; LEWIS, N; HUGHES, H. E et al.Journal of medical genetics. 1993, Vol 30, Num 4, pp 325-327, issn 0022-2593Conference Paper

Prevalence of cystic fibrosis mutations in the Grampian region of ScotlandMIEDZYBRODZKA, Z. H; DEAN, J. C. S; RUSSELL, G et al.Journal of medical genetics. 1993, Vol 30, Num 4, pp 316-317, issn 0022-2593Conference Paper

Absence of linkage between chromosome 21 loci and familial amyotrophic lateral sclerosisKING, A; HOULDEN, H; HARDY, J et al.Journal of medical genetics. 1993, Vol 30, Num 4, issn 0022-2593, p. 318Conference Paper

Phenylketonuria : variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygoteKLEIMAN, S; VANAGAITE, L; BERNSTEIN, J et al.Journal of medical genetics. 1993, Vol 30, Num 4, pp 284-288, issn 0022-2593Conference Paper

Polydactyly : a study of a five generation Indian familyUPPALA RADHAKRISHNA; MULTANI, A. S; SOLANKI, J. V et al.Journal of medical genetics. 1993, Vol 30, Num 4, pp 296-299, issn 0022-2593Conference Paper

Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markersHÄSTBACKA, J; SALONEN, R; LAURILA, P et al.Journal of medical genetics. 1993, Vol 30, Num 4, pp 265-268, issn 0022-2593Conference Paper

Genomic rearrangements in childhood spinal muscular atrophy : linkage disequilibrium with a null alleleDANIELS, R. J; CAMPBELL, L; RODRIGUES, N. R et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 93-96, issn 0022-2593Conference Paper

Facial clefts in the west of Scotland in the period 1980-1984 : epidemiology and genetic diagnosesFITZPATRICK, D. R; MAINE, P. A. M; BOORMAN, J. G et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 126-129, issn 0022-2593Conference Paper

Mosaicism with a normal cell line and an autosomal structural rearrangementGARDNER, R. J. M; DOCKERY, H. E; FITZGERALD, P. H et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 108-114, issn 0022-2593Conference Paper

Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS)BRANDT, C. A; DJERNES, B; STRØMKJÆER, H et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 99-102, issn 0022-2593Conference Paper

The dopamine D3 receptor gene : no association with bipolar affective disorderSHAIKH, S; BALL, D; CRADDOCK, N et al.Journal of medical genetics. 1993, Vol 30, Num 4, pp 308-309, issn 0022-2593Conference Paper