Browsing by Author "Nadia Carstens"
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Item Case Report FBN1 mutation screening in South African patients with Marfan syndromeFelicity Mhlongo; Candice Feben; Amanda Krause; Nadia CarstensItem Exome sequencing identifies existing and novel variants in a South African cohort presentating with anterior segment dysgenesis(ELSEVIER SCIENCE BV) Tebogo Marutha; Sue Williams; Michael Novellie; Bronwyn Dillon; Nadia Carstens; Demetra Mavri-DamelinItem The implementation and utility of clinical exome sequencing in a South African infant cohortLisa Campbell; Joy Fredericks; Khakhu Mathivha; Palesa Moshesh; Ashraf Coovadia; P Chirwa; Bronwyn Dillon; Azra Ghoor; Delania Lawrence; Loshnee Nair; Njabulo Mabaso; Daisy Mokwele; Michael Novellie; Amanda Krause; Nadia CarstensItem Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 NF1 phenotypeMabyalwa Mudau; Bronwyn Dillon; Clarice Smal; Candice Feben; E Honey; Nadia Carstens; Amanda KrauseItem Mutation profiling in South African patients with Cornelia de Lange syndrome phenotypeHeather Seymour; Candice Feben; Patracia Nevondwe; Robyn Kerr; C Spencer; Mabyalwa Mudau; E Honey; Zane Lombard; Amanda Krause; Nadia Carstens