Publicaciones

Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome

Laurin-Sandrow syndrome: review and redefinition

Mariño-Enríquez A, Lapunzina P, Omeñaca F, Morales C, Rodríguez JI. Am J Med Genet A. 2008 Oct 1;146A(19):2557-65. Review

Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association

López-Gutiérrez JC, Lapunzina P. Am J Med Genet A. 2008 Oct 15;146A(20):2583-8

Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I

Martínez-Lage JF, Ruiz-Espejo A, Guillén-Navarro E, Almagro MJ. J Neurosurg. 2008 Oct;109(4):746-50