Publicaciones

Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome

Marzo 1, 2008

Galán-Gómez E, Guerrero-Rico A, Cáceres-Marzal C, Zambrano-Castaño M, Moreno-Tejero ML, Grande-Tejada AM, Fernández-Hernández S, Vaquerizo-Madrid J, Cardesa-García JJ. Eur J Med Genet. 2008 May-Jun;51(3):268-71. Epub 2008 Mar 4

Schimke immunoosseous dysplasia: suggestions of genetic diversity

Marzo 1, 2008

Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lücke T, Alpay H, André JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, Cancrini C, Cochat P, Cockfield S, Collard L, Cordeiro I, Cormier-Daire V, Cransberg K, Cutka K, Deschenes G, Ehrich JH, Fründ S, Georgaki H, Guillen-Navarro…

Detalles

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations

Febrero 1, 2008

Ballana E, Govea N, de Cid R, Garcia C, Arribas C, Rosell J, Estivill X. Hum Mutat. 2008 Feb;29(2):248-57

Type I neurofibromatosis and school phobia

Febrero 1, 2008

Morán Sánchez I, Concepción Salesa A, Guillén Navarro E, Robles Sánchez F. An Pediatr (Barc). 2008 Feb;68(2):201-2.

Publicaciones

Orden según fecha de publicación:

Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome

Schimke immunoosseous dysplasia: suggestions of genetic diversity

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations

Type I neurofibromatosis and school phobia