Publications dans lesquelles il/elle collabore avec María Teresa Piñeiro Gallego (6)

2014

  1. Overview of Bardet-Biedl syndrome in Spain: Identification of novel mutations in BBS1, BBS10 and BBS12 genes

    Clinical Genetics

2012

  1. Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

    Molecular vision, Vol. 18, pp. 1794-1802

2011

  1. Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome

    European Journal of Human Genetics, Vol. 19, Núm. 4, pp. 485-488

  2. Clinical evaluation of two consanguineous families with homozygous mutations in BEST1

    Molecular Vision, Vol. 17, pp. 1607-1617

2010

  1. New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

    Molecular Vision, Vol. 16, pp. 137-143

2009

  1. Investigación en enfermedades raras: Síndrome de Bardet-Biedl

    Investigación: cultura, ciencia y tecnología, Núm. 1, pp. 44-49