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Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.
Kinnear C, Glanzmann B, Banda E, Schlechter N, Durrheim G, Neethling A, Nel E, Schoeman M, Johnson G, van Helden PD, Hoal EG, Esser M, Urban M, Möller M. Kinnear C, et al. Among authors: glanzmann b. BMC Med Genet. 2017 Mar 14;18(1):26. doi: 10.1186/s12881-017-0388-5. BMC Med Genet. 2017. PMID: 28292286 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: glanzmann b. Front Immunol. 2021 May 21;12:665621. doi: 10.3389/fimmu.2021.665621. eCollection 2021. Front Immunol. 2021. PMID: 34093558 Free PMC article.
Deciphering Genetic Susceptibility to Tuberculous Meningitis.
Schurz H, Glanzmann B, Bowker N, van Toorn R, Solomons R, Schoeman J, van Helden PD, Kinnear CJ, Hoal EG, Möller M. Schurz H, et al. Among authors: glanzmann b. Front Neurol. 2022 Mar 25;13:820168. doi: 10.3389/fneur.2022.820168. eCollection 2022. Front Neurol. 2022. PMID: 35401413 Free PMC article.
31 results