Search Results - pathogenic (variable OR variables)

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  1. Veerkragtigheidskenmerke van gesinne met ’n adolessente middelmisbruiker by Masters, Roxanne

    Published 2015
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    Thesis
  2. Identifying Genes and Novel Variants Involved in Nonsyndromic Hearing Impairment, and Assessment of the Psychosocial Burden of Hearing Impairment in Cameroon by Wonkam, Tingang Edmond

    Published 2022
    “…NSHI is the most frequent clinical entity and accounts for 86.1% to 92.5% of cases of hereditary HI in the Cameroonian population. No pathogenic variant was described in GJB6 gene, and the prevalence of pathogenic variants in GJB2 ranged from 0% to 0.5%. …”
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  3. Pathology of west nile virus lineages 1 and 2 in mice and horses

    Published 2014
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    Thesis
  4. Analysis of the potassium voltage-gated channel subfamily Q member 1 gene in sudden unexplained deaths in a South African population

    Published 2023
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    Thesis
  5. Identification of XPA and XPC gene mutations in patients with xeroderma pigmentosum by Rabie, Eman AbdelAlim Sidky

    Published 2016
    “…This is the first study to identify mutations in both XPA and XPC genes in Egyptian XP patients with variable clinical features. Ten mutations were identified; four of which were recurrent mutations, three were novel mutations, and three mutations were reported previously in non-Egyptian XP patients. …”
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    Thesis
  6. Identification of natural product stereochemistry via calculation of ECD spectra by Lolli, Riccardo

    Published 2019
    “…Furthermore, the spectra were calculated in four different solvents, using the implicit SMD method, in order to inform future studies about “variable solvent circular dichroism”. Different conformations of a molecule can be controlled by the choice of solvent and it is hypothesised that a change in solvent will result in a “fingerprint” shift in the ECD spectra that could permit assignment of the stereochemistry. …”
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  7. Pathology of theileriosis in roan antelope (Hippotragus equinus)

    Published 2022
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  8. The response of broilers to acidification of drinking water and feed

    Published 2020
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    Thesis
  9. Validation of the PARVA c.392A>T variant in a South African family with severe Arrhythmogenic Right Ventricular Cardiomyopathy by Kamuli, Stephen

    Published 2017
    “…No definitive evidence of pathogenic PARVA variants was found any of the cardiomyopathy probands screened. …”
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  10. The role of non-structural protein NS3 in the African horse sickness virus infection cycle in mammalian and insect cells

    Published 2020
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    Thesis
  11. Optimisation of a flow cytometry antibody panel to detect BCG-induced innate responses in infants by Mwambene, Temwa Dango

    Published 2024
    “…The underlying basis of the variable disease outcomes to mycobacterial exposure is largely unknown and is thought to involve a complex interplay between genetic variation in both host and pathogen. …”
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  12. Skin Microbiome Dynamics and Strain-Level Dysbiosis in Acne Vulgaris: Evidence from Diverse Egyptian Populations by Abdelaal, Rana

    Published 2026
    “…Recent findings highlight the importance of the skin microbiome, in particular the diversity and strain variability of Cutibacterium acnes, in the pathogenesis of acne. …”
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