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

gan 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
Cyhoeddwyd 2016-02-01

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

gan 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.
Cyhoeddwyd yn Sci Rep (2019)

Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation

gan 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.
Cyhoeddwyd yn Br J Dermatol (2017)

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

gan 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
Cyhoeddwyd 2012-04-01

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

gan 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
Cyhoeddwyd 2012