European Journal of Human Genetics, 1018-4813

Journal

1 - 10 out of 22Page size: 10

Publications

  1. 2016
  2. 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

  3. 2013
  4. 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

  5. 2012
  6. 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

  7. 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

  8. 2011
  9. 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

  10. 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

  11. 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

  12. Published

    Parents’ and children's communication about genetic risk: a qualitative study, learning from families’ experiences

    Alison Metcalfe, Gillian Plumridge, Andrew Shanks & Paramjit Gill, 16 Feb 2011, In : European Journal of Human Genetics.

    Research output: Contribution to journal › Article

  13. 2010
  14. Published

    A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese

    G Neil Thomas, 1 Nov 2010, In : European Journal of Human Genetics. 18, 11, p. 1255-1260 6 p.

    Research output: Contribution to journal › Article

  15. Published

    Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study

    Paul Newby, Jayne Franklyn & Stephen Gough, 1 Sep 2010, In : European Journal of Human Genetics. 18, 9, p. 1021-1026 6 p.

    Research output: Contribution to journal › Article

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