Orphanet Journal of Rare Diseases, 1750-1172

Journal

Publications

  1. 2019
  2. Published

    Under-utilisation of reproducible, child appropriate or patient reported outcome measures in childhood uveitis interventional research

    Solebo, A. L., Robert Barry, Keane, P. A., Rahi, J. S. & Alastair Denniston, 6 Jun 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 125.

    Research output: Contribution to journalReview article

  3. 2018
  4. Published
  5. Published

    Patient reported outcome measures in rare diseases: a narrative review

    Anita Slade, Fatima Isa, Derek Kyte, Tanya Pankhurst, Kerecuk, L., Ferguson, J. W., Lipkin, G. W. & Melanie Calvert, 23 Apr 2018, In : Orphanet Journal of Rare Diseases. 13, 9 p., 61.

    Research output: Contribution to journalArticle

  6. 2017
  7. Published
  8. Published
  9. 2016
  10. Published

    Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment

    Minos, E., Robert Barry, Southworth, S., Folkard, A., Phil Murray, Duker, J. S., Keane, P. A. & Alastair Denniston, 12 May 2016, In : Orphanet Journal of Rare Diseases. 11, 1, 61.

    Research output: Contribution to journalArticle

  11. Published

    Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients

    Renuka Dias, Buchanan, C. R., Neil Thomas, Lim, S., Solanki, G., Stuart Connor, Barrett, T. G. & Kapoor, R. R., 10 Feb 2016, In : Orphanet Journal of Rare Diseases. 11, p. 14

    Research output: Contribution to journalArticle

  12. 2015
  13. Published

    High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease

    Van Groenendael, S., Giacovazzi, L., Davison, F., Holtkemper, O., Wang, Q., Parkinson, K., Timothy Barrett & Geberhiwot, T., 24 Nov 2015, In : Orphanet Journal of Rare Diseases. 10, 149

    Research output: Contribution to journalArticle

  14. Published

    Heterogeneity of primary outcome measures used in clinical trials of treatments for intermediate, posterior, and panuveitis

    Alastair Denniston, Holland, G. N., Kidess, A., Nussenblatt, R. B., Okada, A. A., Rosenbaum, J. T. & Dick, A. D., 19 Aug 2015, In : Orphanet Journal of Rare Diseases. 10, 1, 97.

    Research output: Contribution to journalArticle

  15. Published

    Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome : an observational study

    Nicky Edwards, Moody, W. E., Yuan, M., Warfield, A. T., Cramb, R., Paisey, R. B., Geberhiwot, T. & Steeds, R. P., 24 Jun 2015, In : Orphanet Journal of Rare Diseases. 10, 1, 83.

    Research output: Contribution to journalArticle

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