European Journal of Human Genetics, 1018-4813

Journal

1 - 10 out of 25Page size: 10

Publications

  1. 2021
  2. 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

  3. 2016
  4. 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

  5. Published

    Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA

    Douglas Ward, Adam Devall, Nicholas James, KK Cheng, Maurice Zeegers, Nayneeta Deshmukh & Rik Bryan, 13 Jan 2016, In: European Journal of Human Genetics. 24, p. 1167–1174

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

  6. 2013
  7. Published

    Homozygosity analysis in amyotrophic lateral sclerosis

    Karen Morrison, Dec 2013, In: European Journal of Human Genetics. 21, 12, p. 1429-35 7 p.

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

  8. 2012
  9. Published

    CNVs leading to fusion transcripts in individuals with autism spectrum disorder

    Jean-Baptiste Cazier, Nov 2012, In: European Journal of Human Genetics. 20, 11, p. 1141-7 7 p.

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

  10. 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

  11. 2011
  12. Published

    Clinical utility gene card for: Alstrom syndrome

    Timothy Barrett, 1 Oct 2011, In: European Journal of Human Genetics. 19, 10

    Research output: Contribution to journal › Editorial

  13. Published

    Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population

    Jean-Baptiste Cazier, Jun 2011, In: European Journal of Human Genetics. 19, 6, p. 687-95 9 p.

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

  14. Published

    von Hippel-Lindau disease: A clinical and scientific review.

    Eamonn Maher, 9 Mar 2011, In: European Journal of Human Genetics.

    Research output: Contribution to journal › Article

  15. 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

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