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

Otopalatodigital syndrome type IIHOLDER, S. E; WINTER, R. M.Journal of medical genetics. 1993, Vol 30, Num 4, pp 310-313, issn 0022-2593Conference Paper

Fragile X syndrome : as common as first throught ?SMART, R. D.Journal of medical genetics. 1992, Vol 29, Num 4, issn 0022-2593, p. 287Conference 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

A cytogenetic survey in Menkes disease : implications for the detection of chromosomal rearrangements in X linked disordersTOMMERUP, N; TÜMER, Z; TØNNESEN, T et al.Journal of medical genetics. 1993, Vol 30, Num 4, pp 314-315, 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

Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generationsGERBONI, S; SABATINO, G; MINGARELLI, R et al.Journal of medical genetics. 1993, Vol 30, Num 4, pp 328-329, 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

Possible X linked congenital mitochondrial cardiomyopathy in three familiesÖRSTAVIK, K. H; SKJÖRTEN, F; HELLEBOSTAD, M et al.Journal of medical genetics. 1993, Vol 30, Num 4, pp 269-272, 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

Hypoglossia-hypodactyly syndrome with hydrocephalusLIPSON, A. H; WEAVER, D. D.Journal of medical genetics. 1992, Vol 29, Num 4, issn 0022-2593, p. 287Conference Paper

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