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Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.
Aguilera C, Viñas-Jornet M, Baena N, Gabau E, Fernández C, Capdevila N, Cirkovic S, Sarajlija A, Miskovic M, Radivojevic D, Ruiz A, Guitart M. Aguilera C, et al. Among authors: vinas jornet m. BMC Med Genet. 2017 Nov 21;18(1):137. doi: 10.1186/s12881-017-0500-x. BMC Med Genet. 2017. PMID: 29162042 Free PMC article. Review.
Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders.
Thygesen JH, Wolfe K, McQuillin A, Viñas-Jornet M, Baena N, Brison N, D'Haenens G, Esteba-Castillo S, Gabau E, Ribas-Vidal N, Ruiz A, Vermeesch J, Weyts E, Novell R, Buggenhout GV, Strydom A, Bass N, Guitart M, Vogels A. Thygesen JH, et al. Among authors: vinas jornet m. Br J Psychiatry. 2018 May;212(5):287-294. doi: 10.1192/bjp.2017.65. Br J Psychiatry. 2018. PMID: 29693535 Free PMC article.
Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome.
Bueno M, Esteba-Castillo S, Novell R, Giménez-Palop O, Coronas R, Gabau E, Corripio R, Baena N, Viñas-Jornet M, Guitart M, Torrents-Rodas D, Deus J, Pujol J, Rigla M, Caixàs A. Bueno M, et al. Among authors: vinas jornet m. PLoS One. 2016 Sep 29;11(9):e0163468. doi: 10.1371/journal.pone.0163468. eCollection 2016. PLoS One. 2016. PMID: 27685845 Free PMC article.