Search Results - pathogenic variables

  1. 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%. …”
    Get full text
    Thesis
  2. Pathology of theileriosis in roan antelope (Hippotragus equinus)

    Published 2022
    Get full text
    Thesis
  3. 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. …”
    Get full text
    Thesis
  4. 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. …”
    Get full text
    Get full text
    Thesis
  5. Pathology of west nile virus lineages 1 and 2 in mice and horses

    Published 2014
    Get full text
    Thesis
  6. Veerkragtigheidskenmerke van gesinne met ’n adolessente middelmisbruiker by Masters, Roxanne

    Published 2015
    Get full text
    Thesis
  7. SEASON OF HARVEST OF AMARANTHUS CRUENTUS L. IN RELATION TO SEED-BORNE MYCOFLORA AND MAJOR SHOOT DISEASES

    Published 1990-04
    Full Text Available
    Access Repository
    Thesis
  8. Kaposi's sarcoma: Genetic subtypes and clinical correlation in a South African population by Isaacs, Thuraya

    Published 2017
    “…Seven major subtypes (A, B, C, D, E, F, Z) based on genetic variability of open reading frame (ORF)-K1, have been identified. …”
    Get full text
    Thesis
  9. Barriers to tuberculosis drug discovery: the mycobacterial cell wall by Whittaker, Caitlin

    Published 2023
    “…This presents a potentially novel form of intrinsic resistance whereby stripping of the cell wall could allow for tolerance to cell wall active antibiotics, a previously under-appreciated strategy that has been reported in other pathogenic bacteria. Together, these findings highlight the highly dynamic nature of the mycobacterial cell envelope and the need for further investigation into the properties of this structure that allow for such efficient antibiotic evasion.…”
    Get full text
    Thesis
  10. Analysis of the potassium voltage-gated channel subfamily Q member 1 gene in sudden unexplained deaths in a South African population

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

    Published 2016
    “…In conclusion, identification of pathogenic mutations provided a valuable tool for detection of recurring and private XP mutations in the Egyptian population. …”
    Get full text
    Get full text
    Thesis
  12. Identification of natural product stereochemistry via calculation of ECD spectra by Lolli, Riccardo

    Published 2019
    “…Formicamycin is a natural product, isolated from a new member of Streptomyces bacteria, which has shown great activity against pathogenic drug-resistant bacteria and fungi, without developing antimicrobial resistance. …”
    Get full text
    Thesis
  13. Detection and characterization of genetically diverse paramyxoviruses from African bats

    Published 2021
    Get full text
    Thesis
  14. The effect of environmental conditions on growth and phenotype switching in Mycobacterium smegmatis by Apiyo, Davina-Nelson

    Published 2020
    Get full text
    Thesis