Publications in collaboration with researchers from University of Erlangen-Nuremberg (2)

2013

  1. A comprehensive molecular study on coffin-siris and nicolaides-baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    Human Molecular Genetics, Vol. 22, Núm. 25, pp. 5121-5135

  2. MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study

    Clinical Genetics, Vol. 84, Núm. 6, pp. 539-545