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British Journal of Haematology|July 1, 1988
The spectrum of beta-thalassaemia mutations in SicilyR Di Marzo, C E Dowling, C Wong, et al.Blood|January 1, 1989
Homozygous beta-thalassemia without anemiaS Safaya, R F Rieder, C E Dowling, et al.Blood|October 1, 1986
The spectrum of beta-thalassemia genes in China and Southeast AsiaH H Kazazian, C E Dowling, P G Waber, et al.Blood|April 1, 1986
Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian familyC D Boehm, C E Dowling, P G Waber, et al.American Journal of Human Genetics|July 1, 1985
Evidence supporting a single origin of the beta(C)-globin gene in blacksC D Boehm, C E Dowling, S E Antonarakis, et al.American Journal of Human Genetics|June 11, 1991
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patientsE H Mules, C E Dowling, M B Petersen, et al.Blood|June 11, 1992
Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin geneH H Kazazian, C E Dowling, R L Hurwitz, et al.Nature|November 2, 1987
Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNAC Wong, C E Dowling, R K Saiki, et al.Human Mutation|January 1, 1992
Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania DutchE H Mules, S Hayflick, C E Dowling, et al.Proceedings of the National Academy of Sciences of the United States of America|January 11, 1991
Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of KurdistanD Rund, T Cohen, D Filon, et al.Pageof 2