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Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A, Guay SP, Tran LT, Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M, Moutton S, González-Gutiérrez-Solana L, Thiffault I, Kruer MC, Moron DG, Kauffman M, Goizet C, Sztriha L, Glamuzina E, Melançon SB, Naidu S, Retrouvey JM, Lacombe S, Bernardino-Cuesta B, De Bie I, Bernard G. Mirchi A, et al. Among authors: sylvain m. J Med Genet. 2023 Oct;60(10):1026-1034. doi: 10.1136/jmg-2023-109223. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197783 Free PMC article.
Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.
Perrier S, Guerrero K, Tran LT, Michell-Robinson MA, Legault G, Brais B, Sylvain M, Dorman J, Demos M, Köhler W, Pastinen T, Thiffault I, Bernard G. Perrier S, et al. Among authors: sylvain m. Front Neurol. 2023 Apr 3;14:1148377. doi: 10.3389/fneur.2023.1148377. eCollection 2023. Front Neurol. 2023. PMID: 37077564 Free PMC article.
Leveraging a matrix of stakeholders to facilitate access to chemotherapy for women's cancers in the Democratic Republic of the Congo.
YouYou TG, Mathieu KM, Hicks ML, Henry-Tillman R, Mutombo A, Anaclet MM, Sylvain MK, Hicks MM, Pinder L, Kanda L, Kanda M, Parham GP. YouYou TG, et al. Among authors: sylvain mk. Ecancermedicalscience. 2021 May 13;15:1234. doi: 10.3332/ecancer.2021.1234. eCollection 2021. Ecancermedicalscience. 2021. PMID: 34221117 Free PMC article.
Building a breast cancer detection and treatment platform in the Democratic Republic of the Congo by integrating training, service and infrastructure development.
Mathieu KM, YouYou TG, Hicks ML, Mutombo A, Anaclet MM, Sylvain MK, Pinder L, Hicks MM, Kanda L, Kanda M, Parham GP, Henry-Tillman R. Mathieu KM, et al. Among authors: sylvain mk. Ecancermedicalscience. 2021 May 13;15:1233. doi: 10.3332/ecancer.2021.1233. eCollection 2021. Ecancermedicalscience. 2021. PMID: 34221116 Free PMC article.
36 results