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J S Waye

Showing results (91-100 of 115) with videos related to

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American Journal of Medical Genetics|January 20, 1997
Limb defects in homozygous alpha-thalassemia: report of three casesD Chitayat, M M Silver, K O'Brien, et al.
Annals of Neurology|July 18, 2001
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 familyM Comabella, J S Waye, N Raguer, et al.
Hemoglobin|November 24, 1999
Compound heterozygosity for Hb S and Hb G-CopenhagenM D Carcao, L Chang, A Poon, et al.
Human Mutation|January 1, 1994
Hb FM-Fort Ripley: confirmation of autosomal dominant inheritance and diagnosis by PCR and direct nucleotide sequencingR D Hain, D Chitayat, R Cooper, et al.
American Journal of Medical Genetics|September 20, 2001
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotypeM J Nowaczyk, S A Farrell, W L Sirkin, et al.
Blood|March 1, 1992
Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin geneS P Cai, B Eng, W H Francombe, et al.
American Journal of Hematology|October 1, 1991
Hb S/beta zero-thalassemia due to the approximately 1.4-kb deletion is associated with a relatively mild phenotypeJ S Waye, D H Chui, B Eng, et al.
American Journal of Hematology|June 22, 2000
beta-thalassemia intermedia caused by compound heterozygosity for Hb Malay (beta codon 19 AAC-->AGC; asn-->Ser) and codons 41/42 (-CTTT) beta(0)-thalassemia mutationS K Ma, E Y Chow, A Y Chan, et al.
Journal of Clinical Pathology|April 18, 2001
Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?L C Chan, S K Ma, A Y Chan, et al.
Clinical and Laboratory Haematology|June 26, 2001
Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese familyK F Leung, W Y Au, A Y Chan, et al.
Pageof 12

Showing results (91-100 of 115) with videos related to

Sort By:
Pageof 12
American Journal of Medical Genetics|January 20, 1997
Limb defects in homozygous alpha-thalassemia: report of three casesD Chitayat, M M Silver, K O'Brien, et al.
Annals of Neurology|July 18, 2001
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 familyM Comabella, J S Waye, N Raguer, et al.
Hemoglobin|November 24, 1999
Compound heterozygosity for Hb S and Hb G-CopenhagenM D Carcao, L Chang, A Poon, et al.
Human Mutation|January 1, 1994
Hb FM-Fort Ripley: confirmation of autosomal dominant inheritance and diagnosis by PCR and direct nucleotide sequencingR D Hain, D Chitayat, R Cooper, et al.
American Journal of Medical Genetics|September 20, 2001
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotypeM J Nowaczyk, S A Farrell, W L Sirkin, et al.
Blood|March 1, 1992
Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin geneS P Cai, B Eng, W H Francombe, et al.
American Journal of Hematology|October 1, 1991
Hb S/beta zero-thalassemia due to the approximately 1.4-kb deletion is associated with a relatively mild phenotypeJ S Waye, D H Chui, B Eng, et al.
American Journal of Hematology|June 22, 2000
beta-thalassemia intermedia caused by compound heterozygosity for Hb Malay (beta codon 19 AAC-->AGC; asn-->Ser) and codons 41/42 (-CTTT) beta(0)-thalassemia mutationS K Ma, E Y Chow, A Y Chan, et al.
Journal of Clinical Pathology|April 18, 2001
Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?L C Chan, S K Ma, A Y Chan, et al.
Clinical and Laboratory Haematology|June 26, 2001
Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese familyK F Leung, W Y Au, A Y Chan, et al.
Pageof 12