Publicaciones

Schimke immunoosseous dysplasia: suggestions of genetic diversity

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…

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

Type I neurofibromatosis and school phobia

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

Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies

Bernal S, Solans T, Gamundi MJ, Hernan I, de Jorge L, Carballo M, Navarro R, Tizzano E, Ayuso C, Baiget M. Clin Genet. 2008 Apr;73(4):360-6. Epub 2008 Feb 20