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Page 1
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ Jr, Maric I, Littlejohn RO, Onyekweli T, Members Of The Udn, Adams DR, Tifft CJ, Gahl WA, Wolfe LA, Christodoulou J, Malicdan MCV. Davids M, et al. Among authors: onyekweli t. Mol Genet Metab. 2020 May;130(1):49-57. doi: 10.1016/j.ymgme.2020.02.005. Epub 2020 Feb 10. Mol Genet Metab. 2020. PMID: 32165008 Free PMC article.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership; Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. Ferreira CR, et al. Among authors: onyekweli t. Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003. Am J Hum Genet. 2018. PMID: 30290151 Free PMC article.
Facial Soft Tissue Lesions in Children.
Beck CM, Onyekweli T, Ettinger RE, Boos MD. Beck CM, et al. Among authors: onyekweli t. Oral Maxillofac Surg Clin North Am. 2024 Aug;36(3):247-263. doi: 10.1016/j.coms.2024.03.001. Epub 2024 May 8. Oral Maxillofac Surg Clin North Am. 2024. PMID: 38724424 Review.
The Talking Dead: Cefepime-Induced Cotard Syndrome.
Orr S, Lazris D, Very B, Onyekweli T, Frear A, Leyens K, DeKosky A. Orr S, et al. Among authors: onyekweli t. Prim Care Companion CNS Disord. 2023 Dec 7;25(6):23cr03573. doi: 10.4088/PCC.23cr03573. Prim Care Companion CNS Disord. 2023. PMID: 38134409 Free article. No abstract available.