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Five years' experience of the clinical exome sequencing in a Spanish single center.
Arteche-López A, Ávila-Fernández A, Riveiro Álvarez R, Almoguera B, Bustamante Aragonés A, Martin-Merida I, López Martínez MA, Giménez Pardo A, Vélez-Monsalve C, Gallego Merlo J, García Vara I, Blanco-Kelly F, Tahsin Swafiri S, Lorda Sánchez I, Trujillo Tiebas MJ, Ayuso C. Arteche-López A, et al. Among authors: trujillo tiebas mj. Sci Rep. 2022 Nov 10;12(1):19209. doi: 10.1038/s41598-022-23786-6. Sci Rep. 2022. PMID: 36357507 Free PMC article.
Recommendations for the use of microarrays in prenatal diagnosis.
Suela J, López-Expósito I, Querejeta ME, Martorell R, Cuatrecasas E, Armengol L, Antolín E, Domínguez Garrido E, Trujillo-Tiebas MJ, Rosell J, García Planells J, Cigudosa JC; Grupo de diagnóstico prenatal del INGEMM; Grupo de genética prenatal del Hospital Clínico San Carlos. Suela J, et al. Among authors: trujillo tiebas mj. Med Clin (Barc). 2017 Apr 7;148(7):328.e1-328.e8. doi: 10.1016/j.medcli.2016.12.028. Epub 2017 Feb 21. Med Clin (Barc). 2017. PMID: 28233562 English, Spanish.
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
Natera-de Benito D, Bestué M, Vilchez JJ, Evangelista T, Töpf A, García-Ribes A, Trujillo-Tiebas MJ, García-Hoyos M, Ortez C, Camacho A, Jiménez E, Dusl M, Abicht A, Lochmüller H, Colomer J, Nascimento A. Natera-de Benito D, et al. Among authors: trujillo tiebas mj. Neuromuscul Disord. 2016 Feb;26(2):153-9. doi: 10.1016/j.nmd.2015.10.013. Epub 2015 Nov 23. Neuromuscul Disord. 2016. PMID: 26782015
[Spinocerebellar ataxia type 8: the case of a Spanish family].
Mayo-Cabrero D, Sánchez-Migallón M, Cantarero S, García-Ruiz Espiga PJ, Giménez-Pardo A, Trujillo-Tiebas M, Ayuso-García C. Mayo-Cabrero D, et al. Rev Neurol. 2002 Sep 1-15;35(5):442-5. Rev Neurol. 2002. PMID: 12373678 Free article. Spanish.
Gene symbol: CFTR. Disease: Cystic fibrosis.
Trujillo-Tiebas MJ, Gallego J, García M, Lorda-Sanchez I, Ramos C, Ayuso C. Trujillo-Tiebas MJ, et al. Hum Genet. 2004 Mar;114(4):403. Hum Genet. 2004. PMID: 15046061 No abstract available.
150 results