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Association of Genetic Polymorphisms of TGF-β1, HMOX1, and APOL1 with CKD in Nigerian patients with and without HIV.
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HIV Viremia Is associated With APOL1 Variants and Reduced JC-Viruria
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Novel MYH11 Splice Site Variant Causing Exon Skipping in a Family With Thoracic Aortic Aneurysms and Dissections
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Identification of the MYH6 c.804G>C Synonymous Variant Causing Exon Skipping in a Hypertrophic Cardiomyopathy Family
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Sickle cell trait and targeted genomic variants in chronic kidney disease an African cohort
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Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations
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Pharmacogenomics of sickle cell disease therapeutics: pain and drug metabolism associated gene variants and hydroxyurea-induced post-transcriptional expression of miRNAs
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The occurance of genetic variations in the MYH9 gene and their association with CKD in a mixed South African population
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Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I
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Knowledge and experiences of parents with children affected by Sickle Cell Disease in Cape Town
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Identifying Genes and Novel Variants Involved in Nonsyndromic Hearing Impairment, and Assessment of the Psychosocial Burden of Hearing Impairment in Cameroon
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Risk factors associated with blood pressure variation in sickle cell disease in Cameroon
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Low frequency variants can predetermine antiviral drug resistance development in herpes simplex virus type 1
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A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review
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African Ancestry, APOL1, candidate genes, CDKN2A/CDKN2B, HDAC9, small vessel disease, stroke, West Africa
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Clinical Features and PLCZ1 Gene Variants in Two Cases of Male Infertility: A Case Series and Literature Review
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A point mutation in the FAT domain constitutively increases the kinase activity of Rad3ATR and bypasses the requirement for 9-1–1 phosphorylation to activate the DNA replication checkpoint
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Hypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational Spectrum
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Retraction: The PU.1-Modulated MicroRNA-22 Is a Regulator of Monocyte/Macrophage Differentiation and Acute Myeloid Leukemia
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Study of genetic modifiers of fetal hemoglobin and mechanisms of hydroxyurea-induced γ-globin expression in sickle cell disease
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Analysis of genetic variants in the 5’ regulatory region of the ALAS1 gene in South African patients with Variegate Porphyria (VP)
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Perceptions of health-related quality of life among adults living with sickle cell disease in Cape Town, South Africa
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APOE, PCSK9, and CETP genetic variants as potential biomarkers of dyslipidaemia in black South Africans with Type 2 Diabetes Mellitus
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ZBP1 Drives CD8+ T cell-mediated anti-tumor immunity in head and neck squamous cell carcinoma
