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:
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