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A large deletion in the human α-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 19, p. 3084, doi. 10.1093/hmg/ddn205
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- Article
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 426, doi. 10.1038/ejhg.2014.131
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- Article
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 560, doi. 10.1038/ejhg.2015.39
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- Article
β<sup>S</sup> gene in Central Iran is in linkage disequilibrium with the Indian-Arab haplotype.
- Published in:
- American Journal of Hematology, 2000, v. 65, n. 3, p. 192, doi. 10.1002/1096-8652(200011)65:3<192::AID-AJH3>3.0.CO;2-N
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- Article
Haplotype analysis of the Mexican frameshift Cd 11 (−T) and −28 A→C β-thalassemia alleles.
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- American Journal of Hematology, 1996, v. 51, n. 3, p. 240, doi. 10.1002/(SICI)1096-8652(199603)51:3<240::AID-AJH11>3.0.CO;2-K
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- Article
The molecular basis for the thalassaemias in Sri Lanka.
- Published in:
- British Journal of Haematology, 2003, v. 121, n. 4, p. 662, doi. 10.1046/j.1365-2141.2003.04346.x
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- Article
Screening for β-Thalassemia in Asian Indians by the Amplification-Refractory Mutation System.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 612, n. 1, p. 493, doi. 10.1111/j.1749-6632.1990.tb24341.x
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- Article
β-Thalassaemia mutations and their linkage to β-haplotypes in Tamil Nadu in Southern India.
- Published in:
- Clinical Genetics, 1992, v. 42, n. 5, p. 251, doi. 10.1111/j.1399-0004.1992.tb03250.x
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- Article
Detection of β-thalassaemia mutations using DNA heteroduplex generator molecules.
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- British Journal of Haematology, 1995, v. 90, n. 3, p. 564, doi. 10.1111/j.1365-2141.1995.tb05585.x
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- Article
Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis.
- Published in:
- Clinical Genetics, 1986, v. 29, n. 5, p. 449, doi. 10.1111/j.1399-0004.1986.tb00520.x
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- Article