Search Results - "Mudau, Maria"

Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype by Mudau, Maria Mabyalwa, Dillon, Bronwyn, Smal, Clarice, Feben, Candice, Honey, Engela, Carstens, Nadia, Krause, Amanda

“…Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with complete age-dependent penetrance, variable expressivity and a global prevalence…”
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QF-PCR: a valuable first-line prenatal and postnatal test for common aneuploidies in South Africa by Cottino, Laura, Sahibdeen, Venesa, Mudau, Maria, Lekgate, Nakedi, Krause, Amanda

“…Quantitative fluorescence-polymerase chain reaction (QF-PCR) is useful for the detection of aneuploidies involving chromosomes 13, 18, 21, X and Y. Due to the…”
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Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype by Seymour, Heather, Feben, Candice, Nevondwe, Patracia, Kerr, Robyn, Spencer, Careni, Mudau, Maria, Honey, Engela, Lombard, Zane, Krause, Amanda, Carstens, Nadia

“…Background Cornelia de Lange Syndrome (CdLS) presents with a variable multi‐systemic phenotype and pathogenic variants have been identified in five main genes…”
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A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments by Mudau, Maria Mabyalwa, Seymour, Heather, Nevondwe, Patracia, Kerr, Robyn, Spencer, Careni, Feben, Candice, Lombard, Zané, Honey, Engela, Krause, Amanda, Carstens, Nadia

“…Timely and accurate diagnosis of rare genetic disorders is critical, as it enables improved patient management and prognosis. In a resource-constrained…”
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Screening and identification of endomannanase-producing microfungi from hypersaline environments by Mudau, Mabyalwa Maria, Setati, Mathabatha Evodia

“…A culture-dependent enrichment technique was used to isolate endo-1,4-beta-mannanase-producing fungi from a hypersaline environment. Galactomannan was used as…”
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