Journal of Medical Genetics, ‎0022-2593

Journal

Publications

  1. 2021
  2. E-pub ahead of print

    WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

    Malgosia Zatyka, Dewi Astuti, , Renuka Dias, , , , , , & Timothy Barrett, 18 May 2021, (E-pub ahead of print) In: Journal of Medical Genetics.

    Research output: Contribution to journalArticlepeer-review

  3. 2013
  4. Published
  5. 2012
  6. Published

    A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

    Carl E Clarke & 31 others, , , , , , , , , , , , , , Karen Morrison, , , , , , Sungjin Park, , , , , Jo Stockton, , , , , & , Nov 2012, In: Journal of Medical Genetics. 49, 11, p. 721-6 6 p.

    Research output: Contribution to journalArticlepeer-review

  7. Published

    Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

    James Davison, , , , , Andrew Peet, Paul Gissen, , , , & , Sep 2012, In: Journal of Medical Genetics. 49, 9, p. 569-77 9 p.

    Research output: Contribution to journalArticlepeer-review

  8. Published

    NOTCH2 mutations in Alagille syndrome

    Gideon Hirschfield, , , , , , , , & , Feb 2012, In: Journal of Medical Genetics. 49, 2, p. 138-44 7 p.

    Research output: Contribution to journalArticlepeer-review

  9. Published

    CHRNG genotype-phenotype correlations in the multiple pterygium syndromes

    Neil Morgan, , , , , , , , , , , , & Eamonn Maher, 1 Jan 2012, In: Journal of Medical Genetics. 49, 1, p. 21-26 6 p.

    Research output: Contribution to journalArticle

  10. Published
  11. 2010
  12. Published

    Epigenoty-pephenotype correlations in Silver-Russell syndrome

    Derek Lim, , , Eamonn Maher, , , , , , , , & , 1 Nov 2010, In: Journal of Medical Genetics. 47, 11, p. 760-768 9 p.

    Research output: Contribution to journalArticle

  13. Published

    Risk of breast cancer in male BRCA2 carriers

    Emma Woodward, , , , Eamonn Maher & , 1 Oct 2010, In: Journal of Medical Genetics. 47, 10, p. 710-711 2 p.

    Research output: Contribution to journalArticle

  14. Published

    Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer

    Derek Lim, , , , , , , , Farida Latif, & Eamonn Maher, 1 Jun 2010, In: Journal of Medical Genetics. 47, 6, p. 385-390 6 p.

    Research output: Contribution to journalArticle

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