Published in S Afr Med J on March 02, 2012
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Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa). Eur J Med Genet (2012) 1.21
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. Proc Natl Acad Sci U S A (2004) 1.20
Clinical characteristics and outcomes of familial and idiopathic dilated cardiomyopathy in Cape Town: a comparative study of 120 cases followed up over 14 years. S Afr Med J (2011) 1.20
The guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with achilles tendon injuries. Am J Sports Med (2005) 1.16
The hereditary adult-onset ataxias in South Africa. J Neurol Sci (2003) 1.03
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet Oncol (2012) 1.01
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Orthodontic management of achondroplasia in South Africa. S Afr Med J (2005) 0.88
The burden of sickle cell disease in Cape Town. S Afr Med J (2012) 0.85
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Determining ancestry proportions in complex admixture scenarios in South Africa using a novel proxy ancestry selection method. PLoS One (2013) 0.85
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Qualitative research methodology in the exploration of patients' perceptions of participating in a genetic research program. Ophthalmic Genet (2007) 0.84
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Communicating cancer risk within an African context: experiences, disclosure patterns and uptake rates following genetic testing for Lynch syndrome. Patient Educ Couns (2013) 0.83
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A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations. Eur J Hum Genet (2007) 0.82
Prenatal diagnosis and termination of pregnancy: perspectives of South African parents of children with Down syndrome. J Community Genet (2012) 0.82
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Initiation of prenatal genetic diagnosis of sickle cell anaemia in Cameroon (sub-Saharan Africa). Prenat Diagn (2011) 0.81
A systematic review of known mechanisms of hydroxyurea-induced fetal hemoglobin for treatment of sickle cell disease. Expert Rev Hematol (2015) 0.80
Urethral duplication in a 12-year-old child. Afr J Paediatr Surg (2012) 0.79
Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip. Arch Ophthalmol (2009) 0.79
A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing. BMC Res Notes (2014) 0.78
Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressiva. S Afr Med J (2012) 0.78
Stroke may appear to be rare in Saudi-Arabian and Nigerian children with sickle cell disease, but not in Cameroonian sickle cell patients. Br J Haematol (2006) 0.78
Implications of direct-to-consumer whole-exome sequencing in South Africa. S Afr Med J (2016) 0.77
Prenatal diagnosis may represent a point of entry of genetic science in sub-Saharan Africa: a survey on the attitudes of medical students and physicians from Cameroon. Prenat Diagn (2006) 0.77
Understanding of genetic inheritance among Xhosa-speaking caretakers of children with hemophilia. J Genet Couns (2012) 0.77
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations. Eur J Med Genet (2013) 0.77
Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome. J Genet Couns (2013) 0.76
A mobile colonoscopic unit for lynch syndrome: trends in surveillance uptake and patient experiences of screening in a developing country. J Genet Couns (2013) 0.76
Genetic testing for Huntington's disease in South Africa. S Afr Med J (2008) 0.76
Huntington's disease--like 2 in South Africa. S Afr Med J (2008) 0.75
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Management of a South African family with retinitis pigmentosa-should potential therapy influence translational research protocols? J Ocul Biol Dis Infor (2008) 0.75
Direct-to-consumer genetic testing: to test or not to test, that is the question. S Afr Med J (2013) 0.75
A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora. Invest Ophthalmol Vis Sci (2015) 0.75
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Clinical phenotype of South African children with neurofibromatosis 1. J Child Neurol (2006) 0.75
Caution regarding the interpretation of homoallelism in polyglutamine multiplex assays: a recommendation for confirmatory testing of homozygous alleles. J Mol Diagn (2013) 0.75
Stem cells on South African shores: proposed guidelines for comprehensive informed consent. S Afr Med J (2013) 0.75
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome. S Afr Med J (2016) 0.75