Shor limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies : a variant of Ellis-van Creveld syndrome ?FRYNS, J.-P; MOERMAN, P.Journal of medical genetics. 1993, Vol 30, Num 4, pp 322-324, issn 0022-2593Conference Paper

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

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

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

Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic featuresTRAUTMANN, U; PFEIFFER, R. A; SEUFERT-SATOMI, U et al.Journal of medical genetics. 1993, Vol 30, Num 4, pp 330-331, 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

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

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

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

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

An improved, non-isotopic method of screening cells from patients with abnormalities of sexual differentiation for Y chromosomal DNA contentWITT, M; MICHALCZAK, K; LATOS-BIELENSKA, A et al.Journal of medical genetics. 1993, Vol 30, Num 4, pp 304-307, 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

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