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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group. Vidal S, et al. Among authors: brandi n. Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3. Sci Rep. 2017. PMID: 28947817 Free PMC article.
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Yubero D, Brandi N, Ormazabal A, Garcia-Cazorla À, Pérez-Dueñas B, Campistol J, Ribes A, Palau F, Artuch R, Armstrong J; Working Group. Yubero D, et al. Among authors: brandi n. PLoS One. 2016 May 31;11(5):e0156359. doi: 10.1371/journal.pone.0156359. eCollection 2016. PLoS One. 2016. PMID: 27243974 Free PMC article.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J. Pascual-Alonso A, et al. Among authors: brandi n. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567
Oxidative stress in Rett syndrome.
Sierra C, Vilaseca MA, Brandi N, Artuch R, Mira A, Nieto M, Pineda M. Sierra C, et al. Among authors: brandi n. Brain Dev. 2001 Dec;23 Suppl 1:S236-9. doi: 10.1016/s0387-7604(01)00369-2. Brain Dev. 2001. PMID: 11738881
Plasma thiols and their determinants in phenylketonuria.
Colomé C, Artuch R, Sierra C, Brandi N, Lambruschini N, Campistol J, Vilaseca MA. Colomé C, et al. Among authors: brandi n. Eur J Clin Nutr. 2003 Aug;57(8):964-8. doi: 10.1038/sj.ejcn.1601631. Eur J Clin Nutr. 2003. PMID: 12879091
Lipophilic antioxidants in patients with phenylketonuria.
Colomé C, Artuch R, Vilaseca MA, Sierra C, Brandi N, Lambruschini N, Cambra FJ, Campistol J. Colomé C, et al. Among authors: brandi n. Am J Clin Nutr. 2003 Jan;77(1):185-8. doi: 10.1093/ajcn/77.1.185. Am J Clin Nutr. 2003. PMID: 12499340
69 results