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

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

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

The Baller Gerold syndromeVAN MALDERGEM, L; VERLOES, A; LEJEUNE, L et al.Journal of medical genetics. 1992, Vol 29, Num 4, pp 266-268, 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

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndromeGILLESSEN-KAESBACH, G; GROSS, S; KAYA-WESTERLOH, S et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 88-92, issn 0022-2593Conference Paper

Paternal pericentric inversion of chromosome 4 as a cause of recurrent pregnancy lossWOLF, G. C; MAO, J; IZQUIERDO, L et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 153-155, 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

Modification of standard proteinase K/phenol method for DNA isolation to improve yield and purity from frozen bloodNILOFER NINA AHMAD; CU-UNJIENG, A. B; DONOSO, L. A et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 129-130, issn 0022-2593Conference Paper

Page / 3