EGFR testing and clinical management of advanced NSCLC: a Galician Lung Cancer Group study (GGCP 048-10)

著者: Vázquez S, Casal J, Afonso Afonso FJ, Fírvida JL, Santomé L, Barón F, Lázaro M, Pena C, Amenedo M, Abdulkader I, González-Arenas C, Fachal L, Vega A
出版事項 2016-02-01

Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

著者: Esperón-Moldes, U. S., Pardo-Seco, J., Montalván-Suárez, M., Fachal, L., Ginarte, M., Rodríguez-Pazos, L., Gómez-Carballa, A., Moscoso, F., Ugalde-Noritz, N., Ordóñez-Ugalde, A., Tettamanti-Miranda, D., Ruiz, J. C., Salas, A., Vega, A.
出版年 Sci Rep (2019)

Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation

著者: Boyden, L.M., Craiglow, B.G., Hu, R.H., Zhou, J., Browning, J., Eichenfield, L., Lim, Y.L., Luu, M., Randolph, L.M., Ginarte, M., Fachal, L., Rodriguez-Pazos, L., Vega, A., Kramer, D., Yosipovitch, G., Vahidnezhad, H., Youssefian, L., Uitto, J., Lifton, R.P., Paller, A.S., Milstone, L.M., Choate, K.A.
出版年 Br J Dermatol (2017)

A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

著者: Whiley P, Walker LC, De LA Hoya M, Wappenschmidt B, Becker A, Blanco A, Blok MJ, Caligo MA, Chatfield C, Couch F, Diez O, Fachal L, Guidugli L, Enríquez S, Hansen T, Houdayer C, Imrie S, Lafferty A, Lázaro C, Menéndez M, Montagna M, Montalbán G, Santamariña M, Pederson I, Southey M, Tancredi M, Tenès A, Thomassen M, Van Overeem Vega A, Spurdle AB, Brown MA
出版事項 2012-04-01

A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

著者: Whiley, P, Walker, LC, De LA Hoya, M, Wappenschmidt, B, Becker, A, Blanco, A, Blok, MJ, Caligo, MA, Chatfield, C, Couch, F, Diez, O, Fachal, L, Guidugli, L, Enríquez, S Gutiérrez, Hansen, T, Houdayer, C, Imrie, S, Lafferty, A, Lázaro, C, Menéndez, M, Montagna, M, Montalbán, G, Santamariña, M, Pederson, I Sokilde, Southey, M, Tancredi, M, Tenès, A, Thomassen, M, Van Overeem Vega, A, Spurdle, AB, Brown, MA
出版事項 2012