Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
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
Molecular heterogeneity of β-thalassemia variants in the Eastern region of Morocco.
Belmokhtar I et al.
Molecular Genetics & Genomic Medicine, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing.
Adekile A et al.
Journal of Personalized Medicine, 2021
The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.
Patsali P et al.
Journal of Clinical Medicine, 2019
31766235 (PubMed )
Supplement: jcm-08-01959-s001.pdf
Co-heredity of silent CAP + 1570 T>C (HBB:c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia.
Vinciguerra M et al.
International Journal of Laboratory Hematology, 2016
The spectrum of β-thalassemia mutations in Kermanshah Province in West Iran and its association with hematological parameters.
Mehrabi M et al.
Hemoglobin, 2013
Phenotypic expression and origin of the rare beta-thalassemia splice site mutation HBB:c.315 + 1G>T.
Broquere C et al.
Hemoglobin, 2010
Genetic basis of human complement C8 alpha-gamma deficiency.
Kojima T et al.
Journal of Immunology (baltimore, Md. : 1950), 1998
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