Publicacións nas que colabora con R. Martin Arenas (6)

2021

  1. Molecular and histologic insights on early onset cardiomyopathy in Danon disease females

    Clinical Genetics

2018

  1. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

    Genetics in Medicine, Vol. 20, Núm. 8, pp. 882-889

  2. La secuenciación masiva (NGS) como método diagnóstico en la enfermedad de Stargardt

    Archivos de la Sociedad Española de Oftalmologia, Vol. 93, Núm. 3, pp. 119-125

2017

  1. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

    PLoS ONE, Vol. 12, Núm. 2

2015

  1. Array CGH analysis of paired blood and tumor samples from patients with sporadic Wilms tumor

    PLoS ONE, Vol. 10, Núm. 8

  2. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    European Journal of Human Genetics, Vol. 23, Núm. 12, pp. 1615-1626