Authors:
Toomes, C
Marchbank, NJ
Mackey, DA
Craig, JE
Newbury-Ecob, RA
Bennett, CP
Vize, CJ
Desai, SP
Black, GCM
Patel, N
Teimory, M
Markham, AF
Inglehearn, CF
Churchill, AJ
Citation: C. Toomes et al., Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy, HUM MOL GEN, 10(13), 2001, pp. 1369-1378
Authors:
Henwood, J
Pickard, C
Leek, JP
Bennett, CP
Crow, YJ
Thomson, JDR
Ahmed, M
Watterson, KG
Parsons, JM
Roberts, E
Lench, NJ
Citation: J. Henwood et al., A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?, J MED GENET, 38(8), 2001, pp. 533-536
Authors:
Whatley, SD
Roberts, AG
Llewellyn, DH
Bennett, CP
Garrett, C
Elder, GH
Citation: Sd. Whatley et al., Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBSgene, HUM GENET, 107(3), 2000, pp. 243-248