Human Molecular Genetics, ‎0964-6906

Journal

Publications

  1. 2021
  2. Published

    Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calciumsensing receptor and adaptor protein-2

    Caroline M Gorvin, , , & , 17 Mar 2021, In: Human Molecular Genetics. 2021, 00, p. 1-36

    Research output: Contribution to journalArticlepeer-review

  3. 2018
  4. E-pub ahead of print

    Association of prolactin receptor (PRLR) variants with prolactinomas

    Caroline M Gorvin, , , , , , , , , , , Niki Karavitaki, , & , 15 Nov 2018, (E-pub ahead of print) In: Human Molecular Genetics. 15 p.

    Research output: Contribution to journalArticlepeer-review

  5. E-pub ahead of print
  6. Published

    Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention

    Rebecca Drummond, , , , , , , , , & , 15 Jun 2018, In: Human Molecular Genetics. 27, 12, p. 2076-2089 14 p.

    Research output: Contribution to journalArticlepeer-review

  7. E-pub ahead of print
  8. 2017
  9. Published
  10. 2016
  11. Published

    A blood pressure-associated variant of the SLC39A8 gene influences cellular cadmium accumulation and toxicity

    Claudio Mauro, , , , , , & , 15 Sep 2016, In: Human Molecular Genetics. 25, 18, p. 4117-4126 10 p.

    Research output: Contribution to journalArticlepeer-review

  12. Published

    Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

    & 37 others, , , , , , , Claire Palles, , , , , , , , , , , , , , , , , , , , , , , , , , , , , & , 1 Jun 2016, In: Human Molecular Genetics. 25, 11, p. 2349-2359 11 p.

    Research output: Contribution to journalArticlepeer-review

  13. Published
  14. 2015
  15. Published
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