2013

1. Brachydactyly E: Isolated or as a feature of a syndrome

   Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

2. Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas

   Journal of Clinical Endocrinology and Metabolism, Vol. 98, Núm. 5