Publicacións nas que colabora con CLEA BARCENA FERNANDEZ (2)

2016

  1. Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

    Journal of Medical Genetics, Vol. 53, Núm. 11, pp. 776-785

2014

  1. Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

    BMC Medical Genetics, Vol. 15, Núm. 1