Publicaciones en colaboración con investigadores/as de Boston Children's Hospital (3)

2014

  1. Mutations in EMP2 cause childhood-onset Nephrotic syndrome

    American Journal of Human Genetics, Vol. 94, Núm. 6, pp. 884-890

2013

  1. ADCK4 mutations promote steroid-Resistant nephrotic syndrome through CoQ10 biosynthesis disruption

    Journal of Clinical Investigation, Vol. 123, Núm. 12, pp. 5179-5189

  2. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

    American Journal of Human Genetics, Vol. 93, Núm. 2, pp. 336-345