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A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency.
Meldau S, Ackermann S, Riordan G, van der Watt GF, Spencer C, Raga S, Khan K, Blackhurst DM, van der Westhuizen FH. Meldau S, et al. Among authors: spencer c. Mol Genet Metab Rep. 2024 Mar 29;39:101078. doi: 10.1016/j.ymgmr.2024.101078. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38571879 Free PMC article.
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Bisschoff M, Smuts I, Dercksen M, Schoonen M, Vorster BC, van der Watt G, Spencer C, Naidu K, Henning F, Meldau S, McFarland R, Taylor RW, Patel K, Fassad MR, Vandrovcova J; ICGNMD Consortium; Wanders RJA, van der Westhuizen FH. Bisschoff M, et al. Among authors: spencer c. Orphanet J Rare Dis. 2024 Jan 14;19(1):15. doi: 10.1186/s13023-023-03014-8. Orphanet J Rare Dis. 2024. PMID: 38221620 Free PMC article.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP. Jones AG, et al. Among authors: spencer c. Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005. Am J Hum Genet. 2024. PMID: 38579670
Gordon syndrome: Dental implications and a case report.
Roomaney IA, Walters J, Spencer C, Chetty M. Roomaney IA, et al. Among authors: spencer c. Spec Care Dentist. 2021 Nov;41(6):727-734. doi: 10.1111/scd.12615. Epub 2021 May 26. Spec Care Dentist. 2021. PMID: 34038001
Discordant monoamniotic twins with Pena-Shokeir phenotype.
Adam S, Lombaard H, Spencer C. Adam S, et al. Among authors: spencer c. Clin Case Rep. 2016 Aug 18;4(10):919-921. doi: 10.1002/ccr3.651. eCollection 2016 Oct. Clin Case Rep. 2016. PMID: 27761239 Free PMC article.
1,416 results