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Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Pavinato L, Stanic J, Barzasi M, Gurgone A, Chiantia G, Cipriani V, Eberini I, Palazzolo L, Di Luca M, Costa A, Marcantoni A, Biamino E, Spada M, Hiatt SM, Kelley WV, Vestito L, Sisodiya SM; Genomics England Research Consortium; Efthymiou S, Chand P, Kaiyrzhanov R, Bruselles A, Cardaropoli S, Tartaglia M, De Rubeis S, Buxbaum JD, Smedley D, Ferrero GB, Giustetto M, Gardoni F, Brusco A. Pavinato L, et al. Among authors: bruselles a. Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1. Genet Med. 2023. PMID: 37403762 Free article.
Analysis of co-receptor usage of circulating viral and proviral HIV genome quasispecies by ultra-deep pyrosequencing in patients who are candidates for CCR5 antagonist treatment.
Abbate I, Rozera G, Tommasi C, Bruselles A, Bartolini B, Chillemi G, Nicastri E, Narciso P, Ippolito G, Capobianchi MR. Abbate I, et al. Among authors: bruselles a. Clin Microbiol Infect. 2011 May;17(5):725-31. doi: 10.1111/j.1469-0691.2010.03350.x. Epub 2010 Nov 5. Clin Microbiol Infect. 2011. PMID: 20731681 Free article.
Use of massively parallel ultradeep pyrosequencing to characterize the genetic diversity of hepatitis B virus in drug-resistant and drug-naive patients and to detect minor variants in reverse transcriptase and hepatitis B S antigen.
Solmone M, Vincenti D, Prosperi MC, Bruselles A, Ippolito G, Capobianchi MR. Solmone M, et al. Among authors: bruselles a. J Virol. 2009 Feb;83(4):1718-26. doi: 10.1128/JVI.02011-08. Epub 2008 Dec 10. J Virol. 2009. PMID: 19073746 Free PMC article.
74 results