Associated Papers
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene.
Hamid M et al.
Archives of Iranian Medicine, 2022
Using DNA testing for the precise, definite, and low-cost diagnosis of sickle cell disease and other Haemoglobinopathies: findings from Tanzania.
Christopher H et al.
Bmc Genomics, 2021
β-Thalassemia pathogenic variants in a cohort of children from the East African coast.
Macharia AW et al.
Molecular Genetics & Genomic Medicine, 2020
Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study.
Vasseur C et al.
British Journal of Haematology, 2017
Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).
Turner A et al.
Bmc Medical Genetics, 2016
Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island.
Muszlak M et al.
Hemoglobin, 2015
Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation.
Ozkinay F et al.
Hemoglobin, 2015
Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology.
Hassan SM et al.
Blood Cells, Molecules & Diseases, 2014
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