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

Por 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
Publicado em 2016-02-01

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

Por 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.
Publicado no Sci Rep (2019)

Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation

Por 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.
Publicado no Br J Dermatol (2017)

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

Por 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
Publicado em 2012-04-01

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

Por 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
Publicado em 2012