Joint British medical genetics meetingJournal of medical genetics. 1992, Vol 29, Num 4, pp 272-285, issn 0022-2593Conference Proceedings

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

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

Evidence for paternal imprinting in familial beckwith-wiedemann syndromeVILJOEN, D; RAMESAR, R.Journal of medical genetics. 1992, Vol 29, Num 4, pp 221-225, 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

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

A comparison of methods for gene dosage analysis in HMSN type 1ROWLAND, Jayne S; BARTON, David E; TAYLOR, Graham R et al.Journal of medical genetics. 2001, Vol 38, Num 2, pp 90-95, issn 0022-2593Article

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

A strategy for the rapid isolation of new PCR based DNA polymorphismsHOBAN, P. R; SANTIBANEZ-KOREF, M. F; HEIGHWAY, J et al.Journal of medical genetics. 1992, Vol 29, Num 4, pp 249-250, issn 0022-2593Conference Paper

Age at onset and life table risks in genetic counselling for huntington's diseaseHARPER, P. S; NEWCOMBE, R. G.Journal of medical genetics. 1992, Vol 29, Num 4, pp 239-242, issn 0022-2593Conference Paper

Beckwith-wiedemann syndrome : a demonstration of the mechanisms responsible for the excess of transmitting femalesMOUTOU, C; JUNIEN, C; HENRY, I et al.Journal of medical genetics. 1992, Vol 29, Num 4, pp 217-220, issn 0022-2593Conference Paper

Evidence that Rieger syndrome maps to 4q25 or 4q27VAUX, C; SHEFFIELD, L; KEITH, C. G et al.Journal of medical genetics. 1992, Vol 29, Num 4, pp 256-258, 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

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

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

Sex reversal in a child with a 46,X,Yp+ karyotype : support for the existence of a gene(s), located in distal Xp, involved in testis formationOGATA, T; HAWKINS, J. R; TAYLOR, A et al.Journal of medical genetics. 1992, Vol 29, Num 4, pp 226-230, issn 0022-2593Conference Paper

A complex chromosome rearrangement with 10 breakpoints : tentative assignment of the locus for Williams syndrome to 4q33→Q35.1TUPLER, R; MARASCHIO, P; GERARDO, A et al.Journal of medical genetics. 1992, Vol 29, Num 4, pp 253-255, issn 0022-2593Conference Paper

Campomelic dysplasia associated with a de novo 2q; 17q reciprocal translocationYOUNG, I. D; ZUCCOLLO, J. M; MALTBY, E. L et al.Journal of medical genetics. 1992, Vol 29, Num 4, pp 251-252, issn 0022-2593Conference Paper

Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1)COTO, E; AGUADO, S; ALVAREZ, J et al.Journal of medical genetics. 1992, Vol 29, Num 4, pp 243-246, issn 0022-2593Conference Paper

Interstinal deletion of the distal long arm of chromosome 4SARDA, P; LEFORT, G; FRYNS, J. P et al.Journal of medical genetics. 1992, Vol 29, Num 4, pp 259-261, 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