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Results: 1-5 |
Results: 5

Authors: Prasad, C Johnson, JP Bonnefont, JP Dilling, LA Innes, AM Haworth, JC Beischel, L Thuillier, L Prip-Buus, C Singal, R Thompson, JRG Prasad, AN Buist, N Greenberg, CR
Citation: C. Prasad et al., Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): Evidence for a founder effect andresults of a pilot study on a DNA-based newborn screening program, MOL GEN MET, 73(1), 2001, pp. 55-63

Authors: Trefz, F Buist, N
Citation: F. Trefz et N. Buist, Horst Bickel (1918-2000) - In memoriam, MOL GEN MET, 72(4), 2001, pp. 277-278

Authors: Wildin, RS Ramsdell, F Peake, J Faravelli, F Casanova, JL Buist, N Levy-Lahad, E Mazzella, M Goulet, O Perroni, L Bricarelli, FD Byrne, G McEuen, M Proll, S Appleby, M Brunkow, ME
Citation: Rs. Wildin et al., X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy, NAT GENET, 27(1), 2001, pp. 18-20

Authors: Kolosha, V Anoia, E de Cespedes, C Gitzelmann, R Shih, L Casco, T Saborio, M Trejos, R Buist, N Tedesco, T Skach, W Mitelmann, O Ledee, D Huang, K Stambolian, D
Citation: V. Kolosha et al., Novel mutations in 13 probands with galactokinase deficiency, HUM MUTAT, 15(5), 2000, pp. 447-453

Authors: Hanley, WB Platt, LD Bachman, RP Buist, N Geraghty, MT Isaacs, J O'Flynn, ME Rhead, WJ Seidlitz, G Tishler, B
Citation: Wb. Hanley et al., Undiagnosed maternal phenylketonuria: The need for prenatal selective screening or case finding, AM J OBST G, 180(4), 1999, pp. 986-994
Risultati: 1-5 |