Medical genomics: The intricate path from genetic variant identification to clinical interpretation

por Quintáns, B., Ordóñez-Ugalde, A., Cacheiro, P., Carracedo, A., Sobrido, M.J.
Publicado 2014

Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing

por Quintáns, B., Pardo, J., Campos, B., Barros, F., Volpini, V., Carracedo, Á., Sobrido, M.J.
Publicado 2011

Screening of cacna1a and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies

por Sintas, C, Carreño, O, Corominas, R, Serra, SA, Vila, M, Fernández-Castillo, N, Toma, C, Pons, R, Llaneza, M, Sobrido, MJ, Grinberg, D, Valverde, MA, Fernández-Fernández, JM, Macaya, A, Cormand, B
Publicado 2013