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Results: 1-3 |
Results: 3

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: van Bokhoven, H Hamel, BCJ Bamshad, M Sangiorgi, E Gurrieri, F Duijf, PHG Vanmolkot, KRJ van Beusekom, E van Beersum, SEC Celli, J Merkx, GFM Tenconi, R Fryns, JP Verloes, A Newbury-Ecob, RA Raas-Rotschild, A Majewski, F Beemer, FA Janecke, A Chitayat, D Crisponi, G Kayserili, H Yates, JRW Neri, G Brunner, HG
Citation: H. Van Bokhoven et al., p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation, AM J HU GEN, 69(3), 2001, pp. 481-492

Authors: Cantlay, AM Shokrollahi, K Allen, JT Lunt, PW Newbury-Ecob, RA Steward, CG
Citation: Am. Cantlay et al., Genetic analysis of the G4.5 gene in families with suspected Barth syndrome, J PEDIAT, 135(3), 1999, pp. 311-315
Risultati: 1-3 |