Human Mutation, 1059-7794

Journal

Publications

  1. 2020
  2. Published
  3. 2017
  4. Published
  5. 2016
  6. Cancer Genetics May Aid Diagnostics of Developmental Disorders

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

    Research output: Contribution to journalArticlepeer-review

  7. 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

  8. 2013
  9. Published
  10. Published
  11. 2012
  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

  13. Published

    MouseFinder: Candidate disease genes from mouse phenotype data

    Georgios Gkoutos, 1 May 2012, In : Human Mutation. 33, 5, p. 858-866 9 p.

    Research output: Contribution to journalArticlepeer-review

  14. Published
  15. Published
  16. 2011
  17. Published
  18. 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

  19. 2010
  20. 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

  21. 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

  22. 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

  23. Published
  24. 2009
  25. 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

  26. Published
  27. Published
  28. 2008
  29. Published
  30. 2007
  31. 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

  32. 2005
  33. Published
  34. 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

  35. 2003
  36. Published
  37. 2001
  38. 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