Human Mutation, 1059-7794

Journal

Publications

  1. 2011
  2. Published
  3. Published

    Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

    Apr 2011, In : Human Mutation. 32, 4, p. E2069-78

    Research output: Contribution to journalArticlepeer-review

  4. 2010
  5. Published

    Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families

    Niki Karavitaki, Aug 2010, In : Human Mutation. 31, 8, p. 950-60 11 p.

    Research output: Contribution to journalArticlepeer-review

  6. Published

    Design and Validation of a Metabolic Disorder Resequencing Microarray (BRUM1)

    Christopher Bruce, Timothy Barrett, Eamonn Maher & Paul Gissen, 1 Jul 2010, In : Human Mutation. 31, 7, p. 858-865 8 p.

    Research output: Contribution to journalArticle

  7. Published

    A New Locus-Specific Database (LSDB) for Mutations in the Folliculin (FLCN) Gene

    Derek Lim & Eamonn Maher, 1 Jan 2010, In : Human Mutation. 31, 1, p. E1043-E1051

    Research output: Contribution to journalArticle

  8. Published
  9. 2009
  10. Published

    Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole

    Esther Meyer, Eamonn Maher, 1 May 2009, In : Human Mutation. 30, 5, p. E629-E639

    Research output: Contribution to journalArticle

  11. Published
  12. Published
  13. 2008
  14. Published