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Results: 1-3 |
Results: 3
Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3
Authors: Roscioli, T Flanagan, S Mortimore, RJ Kumar, P Weedon, D Masel, J Lewandowski, R Hyland, V Glass, IA
Citation: T. Roscioli et al., Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3, AM J MED G, 101(3), 2001, pp. 187-194
Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1molecular analysis
Authors: Klingberg, S Mortimore, R Parkes, J Chick, JED Clague, AE Murrell, D Weedon, D Glass, IA
Citation: S. Klingberg et al., Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1molecular analysis, PRENAT DIAG, 20(8), 2000, pp. 618-622
Health technology assessment in Australia
Authors: Weedon, D
Citation: D. Weedon, Health technology assessment in Australia, MED J AUST, 171(10), 1999, pp. 551-552
Risultati: 1-3 |