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Results: 1-4 |
Results: 4

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

Authors: Maltby, EL Barnes, ICS Bennett, CP
Citation: El. Maltby et al., Duplication involving band 4q32 with minimal clinical effect, AM J MED G, 83(5), 1999, pp. 431-431
Risultati: 1-4 |