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 2019

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 2012