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Implications of direct-to-consumer whole-exome sequencing in South Africa.
Lombard Z, Baine F, Krause A, Lochan A, Macualay S, Spencer C, Aldous C, De Vries J, Fieggen K, Henderson B, Hoal E, Kinnear C, Kinsley N, September A, Urban M, Soodyall H, Pepper M, Ramsay M. Lombard Z, et al. Among authors: urban m. S Afr Med J. 2016 Jan 12;106(2):139-40. doi: 10.7196/SAMJ.2016.v106i2.10534. S Afr Med J. 2016. PMID: 26821891
Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.
Glanzmann B, Möller M, Moncada-Velez M, Peter J, Urban M, van Helden PD, Hoal EG, de Villiers N, Glashoff RH, Nortje R, Bustamante J, Abel L, Casanova JL, Boisson-Dupuis S, Esser M, Kinnear CJ. Glanzmann B, et al. Among authors: urban m. J Clin Immunol. 2018 May;38(4):460-463. doi: 10.1007/s10875-018-0509-8. Epub 2018 May 18. J Clin Immunol. 2018. PMID: 29777412 Free PMC article. No abstract available.
Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.
Glanzmann B, Möller M, Schoeman M, Urban M, van Helden PD, Frigati L, Grewal R, Pieters H, Loos B, Hoal EG, Glashoff RH, Cornelissen H, Rabie H, Esser MM, Kinnear CJ. Glanzmann B, et al. Among authors: urban m. BMC Med Genet. 2020 Jun 5;21(1):124. doi: 10.1186/s12881-020-01054-6. BMC Med Genet. 2020. PMID: 32503528 Free PMC article.
Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht C, Urban M, Schoeman M, Paarwater B, van Coller A, Abraham DR, Cornelissen H, Glashoff R, Esser M, Möller M, Kinnear C, Glanzmann B. Engelbrecht C, et al. Among authors: urban m. Front Immunol. 2021 May 21;12:665621. doi: 10.3389/fimmu.2021.665621. eCollection 2021. Front Immunol. 2021. PMID: 34093558 Free PMC article.
1,496 results