Publicacions en col·laboració amb investigadors/es de University Medical Center Hamburg-Eppendorf (4)

2007

  1. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation

    European Journal of Human Genetics, Vol. 15, Núm. 1, pp. 29-34

2006

  1. The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody

    Genomics, Vol. 87, Núm. 2, pp. 243-253

2004

  1. Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

    Genomics, Vol. 84, Núm. 1, pp. 69-81

2002

  1. A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: Implications for recombinations in this region

    Genomics, Vol. 80, Núm. 3, pp. 259-267