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Results: 1-11 |
Results: 11
Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G -> A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family
Authors: Comabella, M Waye, JS Raguer, N Eng, B Dominguez, C Navarro, C Borras, C Krivit, W Montalban, X
Citation: M. Comabella et al., Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G -> A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family, ANN NEUROL, 50(1), 2001, pp. 108-112
Novel beta-thalassemia mutation in a beta-thalassemia intermedia patient [poly A (AATAAA -> GATAAA)]
Authors: Waye, JS Eng, B Patterson, M Reis, MD Macdonald, D Chui, DHK
Citation: Js. Waye et al., Novel beta-thalassemia mutation in a beta-thalassemia intermedia patient [poly A (AATAAA -> GATAAA)], HEMOGLOBIN, 25(1), 2001, pp. 103-105
Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases
Authors: Waye, JS Eng, B Patterson, M Walker, L Carcao, MD Olivieri, NF Chui, DHK
Citation: Js. Waye et al., Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases, AM J HEMAT, 68(1), 2001, pp. 11-15
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome
Authors: Nowaczyk, MJM Nakamura, LM Eng, B Porter, FD Waye, JS
Citation: Mjm. Nowaczyk et al., Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome, AM J MED G, 102(4), 2001, pp. 383-386
Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome
Authors: Nowaczyk, MJM Garcia, DM Eng, B Waye, JS
Citation: Mjm. Nowaczyk et al., Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome, AM J MED G, 102(4), 2001, pp. 387-388
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome
Authors: Nowaczyk, MJM Heshka, T Eng, B Feigenbaum, AJ Waye, JS
Citation: Mjm. Nowaczyk et al., DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome, AM J MED G, 100(2), 2001, pp. 162-163
Hb H hydrops foetalis syndrome: a case report and review of literature
Authors: Lorey, F Charoenkwan, P Witkowska, HE Lafferty, J Patterson, M Eng, B Waye, JS Finklestein, JZ Chui, DHK
Citation: F. Lorey et al., Hb H hydrops foetalis syndrome: a case report and review of literature, BR J HAEM, 115(1), 2001, pp. 72-78
Second report of Hb Toulon [alpha 77(EF6)Pro -> His] in a Canadian family of Italian descent
Authors: Waye, JS Eng, B Chui, DHK Powers, PJ Lafferty, JD
Citation: Js. Waye et al., Second report of Hb Toulon [alpha 77(EF6)Pro -> His] in a Canadian family of Italian descent, HEMOGLOBIN, 24(4), 2000, pp. 359-360
PCR-based diagnosis of the Filipino (__(FIL)) and Thai (__(THAI)) alpha-thalassemia-1 deletions
Authors: Eng, B Patterson, M Borys, S Chui, DHK Waye, JS
Citation: B. Eng et al., PCR-based diagnosis of the Filipino (__(FIL)) and Thai (__(THAI)) alpha-thalassemia-1 deletions, AM J HEMAT, 63(1), 2000, pp. 54-56
Compound heterozygosity for Hb S and Hb G-Copenhagen
Authors: Carcao, MD Chang, L Poon, A Olivieri, NF Waye, JS Eng, B Patterson, M Chui, DHK
Citation: Md. Carcao et al., Compound heterozygosity for Hb S and Hb G-Copenhagen, HEMOGLOBIN, 23(4), 1999, pp. 379-381
Spectrum of beta-thalassemia mutations in Egypt
Authors: Waye, JS Borys, S Eng, B Patterson, M Chui, DHK El-Din, OMKB Aref, MK Afify, Z
Citation: Js. Waye et al., Spectrum of beta-thalassemia mutations in Egypt, HEMOGLOBIN, 23(3), 1999, pp. 255-261
Risultati: 1-11 |