Publications (10) Publications in which a researcher has participated

2013

  1. A Xq21.31 duplication without features of Prader-Willi syndrome

    Endocrine

  2. Autosomal recessive congenital ichthyosis

    Actas Dermo-Sifiliograficas

  3. BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency

    Clinical Genetics

  4. CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families

    Clinical and Translational Oncology

  5. Corrigendum

    Carcinogenesis

  6. First symposium of ichthyosis experts

    Actas Dermo-Sifiliograficas

  7. Microdeleción 16p11.2 asociada a convulsiones benignas de la primera infancia

    Revista de Neurologia

  8. Microdeleción 2q23.1 y hallazgos sindrómicos

    Revista de Neurologia

  9. New guidelines for the publication of genetic population data

    Forensic Science International: Genetics

  10. Trimetilaminuria primaria o síndrome del olor a pescado: diagnóstico precoz desde atención primaria

    Anales de Pediatria