Human Mutation, 1059-7794

Journal

Publications

  1. Article › Research › Not peer-reviewed
  2. Published
  3. 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

  4. Article › Research › Peer-reviewed
  5. Published
  6. Published
  7. Cancer Genetics May Aid Diagnostics of Developmental Disorders

    Oct 2016, In: Human Mutation. 37, 10, p. 989

    Research output: Contribution to journalArticlepeer-review

  8. 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

  9. 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

  10. Published

    MCM3AP and POMP mutations cause a DNA-repair and DNA-damage-signaling defect in an immunodeficient child

    Susanne Gatz, Mar 2016, In: Human Mutation. 37, 3, p. 257-268 12 p.

    Research output: Contribution to journalArticlepeer-review

  11. Published
  12. Published

    Mouse genetic and phenotypic resources for human genetics

    Georgios Gkoutos, 1 May 2012, In: Human Mutation. 33, 5, p. 826-836 11 p.

    Research output: Contribution to journalArticlepeer-review