Publicaciones

Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites

Venceslá A, Corral-Rodríguez MA, Baena M, Cornet M, Domènech M, Baiget M, Fuentes-Prior P, Tizzano EF. Blood. 2008 Apr 1;111(7):3468-78. Epub 2008 Jan 9

Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation

Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. Am J Med Genet A. 2006 Jan 1;140(1):1-7.