Publicaciones en colaboración con investigadores/as de Hospital Universitario La Fe (8)

2009

  1. Duplication of he Williams-Beuren critical region: Case report and further delineation of the phenotypic spectrum

    BMJ Case Reports

  2. Duplication of the Williams-Beuren critical region: Case report and further delineation of the phenotypic spectrum

    BMJ Case Reports

2008

  1. Duplication of the Williams-Beuren critical region: Case report and further delineation of the phenotypic spectrum

    Journal of Medical Genetics

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

2004

  1. Localization of MRX82: A new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family

    American Journal of Medical Genetics, Vol. 131 A, Núm. 2, pp. 174-178

  2. Screening for Microdeletions of the X-Chromosome in Non-Specific Mental Retardation [2]

    American Journal of Medical Genetics

2003

  1. Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome

    Clinical Genetics, Vol. 64, Núm. 6, pp. 491-496

2001

  1. Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2

    American Journal of Medical Genetics, Vol. 102, Núm. 2, pp. 200-204