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Mutation of PACS1: the milder end of the spectrum.
Martinez-Monseny A, Bolasell M, Arjona C, Martorell L, Yubero D, Arsmtrong J, Maynou J, Fernandez G, Del Carmen Salgado M, Palau F, Serrano M. Martinez-Monseny A, et al. Among authors: fernandez g. Clin Dysmorphol. 2018 Oct;27(4):148-150. doi: 10.1097/MCD.0000000000000237. Clin Dysmorphol. 2018. PMID: 30113927 No abstract available.
Plasma coenzyme Q10 status is impaired in selected genetic conditions.
Montero R, Yubero D, Salgado MC, González MJ, Campistol J, O'Callaghan MDM, Pineda M, Delgadillo V, Maynou J, Fernandez G, Montoya J, Ruiz-Pesini E, Meavilla S, Neergheen V, García-Cazorla A, Navas P, Hargreaves I, Artuch R. Montero R, et al. Among authors: fernandez g. Sci Rep. 2019 Jan 28;9(1):793. doi: 10.1038/s41598-018-37542-2. Sci Rep. 2019. PMID: 30692599 Free PMC article.
Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples.
Paredes-Fuentes AJ, Montero R, Codina A, Jou C, Fernández G, Maynou J, Santos-Ocaña C, Riera J, Navas P, Drobnic F, Artuch R. Paredes-Fuentes AJ, et al. Among authors: fernandez g. Antioxidants (Basel). 2020 Oct 13;9(10):979. doi: 10.3390/antiox9100979. Antioxidants (Basel). 2020. PMID: 33066002 Free PMC article.
Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia.
Vega-Garcia N, Benito R, Esperanza-Cebollada E, Llop M, Robledo C, Vicente-Garcés C, Alonso J, Barragán E, Fernández G, Hernández-Sánchez JM, Martín-Izquierdo M, Maynou J, Minguela A, Montaño A, Ortega M, Torrebadell M, Cervera J, Sánchez J, Jiménez-Velasco A, Riesco S, Hernández-Rivas JM, Lassaletta Á, Fernández JM, Rives S, Dapena JL, Ramírez M, Camós M, On Behalf Of The Group Of Leukemia Of The Spanish Society Of Pediatric Hematology And Oncology Sehop. Vega-Garcia N, et al. Among authors: fernandez jm, fernandez g. J Pers Med. 2020 Nov 26;10(4):244. doi: 10.3390/jpm10040244. J Pers Med. 2020. PMID: 33255984 Free PMC article.
1,441 results