European Journal of Human Genetics, 1018-4813

Journal

1 - 10 out of 25Page size: 10

Publications

  1. Published

    Genomics and breast cancer: the different levels of inherited susceptibility

    Andrew Beggs, 2009, In: European Journal of Human Genetics. 17, 7, p. 855-6 2 p.

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

  2. Published

    Assessing the pathogenicity of MLH1 missence mutations in patients with suspected Hereditary Non-Polyposis Colorectal Cancer (HNPCC): correlation with clinical, genetic and functional features

    Emilio Porfiri, 17 May 2006, In: European Journal of Human Genetics. 14, p. 853-859 7 p.

    Research output: Contribution to journal › Article

  3. Published

    Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome

    Wendy Cooper, 6 Jul 2005, In: European Journal of Human Genetics. 13, p. 1025-1032 8 p.

    Research output: Contribution to journal › Article

  4. Published

    Genetic modifiers in rare disorders: the case of fragile X syndrome

    Lucy Wilde, Andrew Beggs, Joanne Stockton, Chris Oliver, Jan 2021, In: European Journal of Human Genetics. 29, 1, p. 173–183 11 p.

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

  5. Published

    Association of the TSHR gene with Graves' disease: the first disease specific locus

    Oliver Brand, Jayne Franklyn & Stephen Gough, 17 Aug 2005, In: European Journal of Human Genetics. 13, p. 1223-1230 8 p.

    Research output: Contribution to journal › Article

  6. Published

    Replication analysis identifies TYKe as a mulitiple sclerosis suscepibility factor

    Jayne Franklyn, 1 Jan 2009, In: European Journal of Human Genetics. 17, 10, p. 1309-13 5 p.

    Research output: Contribution to journal › Article

  7. Published

    Influences of history, geography, and religion on genetic structure: The Maronites in Lebanon

    Mar 2011, In: European Journal of Human Genetics. 19, 3, p. 334-340 7 p.

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

  8. Published

    Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations

    Jun 2016, In: European Journal of Human Genetics.

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

  9. Published

    Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility

    Dewi Astuti & Timothy Barrett, 2012, In: European Journal of Human Genetics.

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

  10. Published

    The deleted in colorectal carcinoma (DCC) gene 201 R>G polymorphism: no evidence for genetic association with autoimmune disease

    Heward King & Stephen Gough, 1 Nov 2003, In: European Journal of Human Genetics. 11, 11, p. 840-844 5 p.

    Research output: Contribution to journal › Article

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