Publicaciones

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan…

Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser

Characterization of six marker chromosomes by comparative genomic hybridization

Belloso JM, Caballín MR, Gabau E, Baena N, Vidal R, Villatoro S, Guitart M. Am J Med Genet A. 2005 Jul 15;136(2):169-74

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes