Human Mutation, 1059-7794

Journal

Publications

  1. 2001
  2. Published

    WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

    Farhat Khanim, Farida Latif & Timothy Barrett, 1 May 2001, In : Human Mutation. 17, 5, p. 357-367 11 p.

    Research output: Contribution to journalArticle

  3. 2003
  4. Published
  5. 2005
  6. Published
  7. Published

    Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita

    Nils Krone, 2005, In : Human Mutation. 25, 5, p. 502-3 2 p.

    Research output: Contribution to journalArticlepeer-review

  8. 2007
  9. Published

    Genotype-phenotype correlations in von Hippel-Lindau disease

    Emma Woodward & Eamonn Maher, 1 Feb 2007, In : Human Mutation. 28, 2, p. 143-149 7 p.

    Research output: Contribution to journalArticle

  10. 2008
  11. Published
  12. 2009
  13. Published
  14. Published
  15. 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

  16. 2010
  17. 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

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