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Results: 2

Authors: Rupar, CA Matsell, D Surry, S Siu, V
Citation: Ca. Rupar et al., A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population, J MED GENET, 38(9), 2001, pp. 615-616

Authors: Metcalfe, K Rucka, AK Smoot, L Hofstadler, G Tuzler, G McKeown, P Siu, V Rauch, A Dean, J Dennis, N Ellis, I Reardon, W Cytrynbaum, C Osborne, L Yates, JR Read, AP Donnai, D Tassabehji, M
Citation: K. Metcalfe et al., Elastin: mutational spectrum in supravalvular aortic stenosis, EUR J HUM G, 8(12), 2000, pp. 955-963
Risultati: 1-2 |