Orphanet Journal of Rare Diseases, 1750-1172

Journal

1 - 10 out of 15Page size: 10

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 journal › Review article

  3. 2018
  4. Published

    Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism

    Dawn Adams, Hastings, R. P., Alston-Knox, C., Cianfaglione, R., Kate Eden, Felce, D., Griffith, G., Moss, J., Chris Stinton & Chris Oliver, 25 Oct 2018, In : Orphanet Journal of Rare Diseases. 13, 185.

    Research output: Contribution to journal › Article

  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 journal › Article

  6. 2017
  7. Published

    An update on the use of biologic therapies in the management of uveitis in Behçet's disease: a comprehensive review

    McNally, T. W., Damato, E. M., Phil Murray, Alastair Denniston & Robert Barry, 17 Jul 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 130

    Research output: Contribution to journal › Article

  8. Published

    Tubulointerstitial nephritis and uveitis (TINU) syndrome: a systematic review of its epidemiology, demographics and risk factors

    Okafor, L. O., Hewins, P., Phil Murray & Alastair Denniston, 14 Jul 2017, In : Orphanet Journal of Rare Diseases. 12, 1, 128.

    Research output: Contribution to journal › Article

  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 journal › Article

  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 journal › Article

  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 journal › Article

  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 journal › Article

  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 journal › Article

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