Orphanet Journal of Rare Diseases, ‎1750-1172

Journal

1 - 10 out of 18Page size: 10

Publications

  1. 2020
  2. Published

    Prospective cardiovascular magnetic resonance imaging in adults with Alström syndrome: silent progression of diffuse interstitial fibrosis

    Larissa Fabritz, , Boyang Liu, & , 5 Jun 2020, In: Orphanet Journal of Rare Diseases. 15, 139.

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

  3. 2019
  4. Published

    Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency:: a systematic review

    Rebecca Johnson, , Martin Connock, , & , 15 Nov 2019, In: Orphanet Journal of Rare Diseases. 14

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

  5. Published

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

    Robert Barry, , & Alastair Denniston, 6 Jun 2019, In: Orphanet Journal of Rare Diseases. 14, 1, 125.

    Research output: Contribution to journal › Review article › peer-review

  6. 2018
  7. 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, , , , Kate Eden, , , , Chris Stinton & Chris Oliver, 25 Oct 2018, In: Orphanet Journal of Rare Diseases. 13, 185.

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

  8. Published

    Patient reported outcome measures in rare diseases: a narrative review

    Anita Slade, Fatima Isa, Derek Kyte, Tanya Pankhurst, , , & Melanie Calvert, 23 Apr 2018, In: Orphanet Journal of Rare Diseases. 13, 9 p., 61.

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

  9. 2017
  10. Published

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

    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 › peer-review

  11. Published

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

    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 › peer-review

  12. Published

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

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

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

  13. 2016
  14. Published

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

    Robert Barry, , , Phil Murray, , & Alastair Denniston, 12 May 2016, In: Orphanet Journal of Rare Diseases. 11, 1, 61.

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

  15. Published

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

    Renuka Dias, , Neil Thomas, , , Stuart Connor, & , 10 Feb 2016, In: Orphanet Journal of Rare Diseases. 11, p. 14

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

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