Human Mutation, 1059-7794

Journal

1 - 10 out of 25Page size: 10
Sort by: Type

Publications

  1. Article › Research › Peer-reviewed
  2. Published

    A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants

    Abdullah Khan & Neil Morgan, 28 Oct 2020, In: Human Mutation. 41, 11, p. 1848-1865

    Research output: Contribution to journal › Article › peer-review

  3. Published

    Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

    Anna Straatman-Iwanowska, Blerida Banushi, Christopher Bruce, Hakan Cangul & 4 others, , Paul Gissen & Steve Watson, 2012, In: Human Mutation. 33, 12, p. 1656-64 9 p.

    Research output: Contribution to journal › Article › peer-review

  4. Cancer Genetics May Aid Diagnostics of Developmental Disorders

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

    Research output: Contribution to journal › Article › peer-review

  5. 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 journal › Article › peer-review

  6. 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 journal › Article › peer-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 journal › Article › peer-review

  8. Published

    Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram and Thiamine-responsive megaloblastic anaemia

    Dewi Astuti, Malgosia Zatyka & 14 others, , Renuka Dias & Timothy Barrett, Jul 2017, In: Human Mutation. 38, 7, p. 764-777

    Research output: Contribution to journal › Article › peer-review

  9. 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 journal › Article › peer-review

  10. 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 journal › Article › peer-review

  11. Published

    Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

    Danai Bem & 15 others, , John Graham, Eamonn Maher & Irene Aligianis, May 2013, In: Human Mutation. 34, 5, p. 686-96 11 p.

    Research output: Contribution to journal › Article › peer-review

Previous 1 2 3 Next