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

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

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

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

Leber's hereditary optic neuropathy : the clinical relevance of different mitochondrial DNA mutationsRIORDAN-EVA, P; HARDING, A. E.Journal of medical genetics. 1995, Vol 32, Num 2, pp 81-87, 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

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

Partial trisomy 3q causing mild Cornelia de Lange phenotypeHOLDER, S. E; GRIMSLEY, L. M; PALMER, R. W et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 150-152, 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

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

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

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

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

Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imaging in a voluntary family registerELLES, R. G; HODGKINSON, K. A; MALLICK, N. P et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 115-120, 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

Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities : role of X inactivationCALLEN, D. F; EYRE, H. J; DOLMAN, G et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 113-116, 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

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

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

Another patient with an interstitial deletion of chromosome 9 : case report and a review of six cases with del(9)(q22q32)KROES, H. Y; TUERLINGS, J. H. A. M; HORDIJK, R et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 156-158, 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