Search Results - broad defect identification

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  1. Identification of variants responsible for primary immunodeficiency disease in South African patients using whole genome sequencing by Swart, Robin Grant

    Published 2021
    “…This study investigated individuals suffering from various PIDs, with the aim of identifying the potential molecular defects responsible by means of NGS, as well as comparing two NGS platforms. …”
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  2. Investigation of the N-terminal interactions of cardiac myosin-binding protein C (cMyBPC) under defined phosphorylation states by Ramburan, A.

    Published 2008
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  3. The impact of developmental stress on the functioning and vulnerability of CNS neurons by Pienaar, Ilse-Sanet

    Published 2008
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  4. Electrochemical reduction of carbon dioxide to liquid fuels : conversion of a thermal catalyst to an electrocatalyst

    Published 2020
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    Thesis