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Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
Maselli RA, Arredondo J, Vázquez J, Chong JX; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. Maselli RA, et al. Among authors: vazquez j. Am J Med Genet A. 2017 Aug;173(8):2240-2245. doi: 10.1002/ajmg.a.38291. Epub 2017 May 25. Am J Med Genet A. 2017. PMID: 28544784 Free PMC article.
Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.
Bevilacqua JA, Lara M, Díaz J, Campero M, Vázquez J, Maselli RA. Bevilacqua JA, et al. Among authors: vazquez j. Eur J Transl Myol. 2017 Sep 20;27(3):6832. doi: 10.4081/ejtm.2017.6832. eCollection 2017 Jun 27. Eur J Transl Myol. 2017. PMID: 29118959 Free PMC article.
Impacts of a newly formed lava delta on the marine environment: Lava-induced upwelling and abrupt chlorophyll depletion during the Tajogaite eruption (La Palma, 2021).
González-Vega A, Martín-Díaz JP, Vázquez JT, Gómez-Ballesteros M, Sánchez-Guillamón O, Rodríguez JAL, Arrieta JM, Ferrera I, Huertas IE, Tovar-Sánchez A, Presas-Navarro C, Fraile-Nuez E. González-Vega A, et al. Among authors: vazquez jt. Sci Total Environ. 2024 Jun 11:173915. doi: 10.1016/j.scitotenv.2024.173915. Online ahead of print. Sci Total Environ. 2024. PMID: 38871328
FAIR reporting of clinical trials for public health practice.
Balas EA, Bussi BS, Asem N, Amour C, Mwanziva C, Vazquez J, Labib NA, Price M, Mahande MJ, Baskar R, Dhantu S, Townsend TG, Aubert C. Balas EA, et al. Among authors: vazquez j. Proc Eur Acad Sci Arts. 2024;3:19. doi: 10.4081/peasa.19. Epub 2024 Feb 9. Proc Eur Acad Sci Arts. 2024. PMID: 38845630 Free PMC article.
2,300 results