Publicaciones

Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications

Torres-Juan L, Rosell J, Sánchez-de-la-Torre M, Fibla J, Heine-Suñer D.BMC Med Genet. 2007 Apr 2;8:14

Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications

Mendioroz J, Bermejo E, Marshall JD, Naggert JK, Collin GB, Martínez-Frías ML. Med Clin (Barc). 2008 Nov 29;131(19):741

Aicardi-Goutières syndrome. Review of the genetic bases and their mechanisms

Sanchis Calvo A, Cerveró Martí L, Martínez Frías ML. An Pediatr (Barc). 2008 Nov;69(5):496-7. Spanish

Adaptive behaviour in Angelman syndrome: its profile and relationship to age