Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

OJRD's 10th Anniversary

Please visit our special 10th Anniversary/ Rare Disease Day site, for new publications, blogs, a quiz, and "OJRD Classics", a look at the journal and its advocacy for the voices of rare diseases over the last decade.

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The official journal of Orphanet, the portal for rare diseases and orphan drugs.

1. POSITION STATEMENT

   Directions for new developments on statistical design and analysis of small population group trials

   Ralf-Dieter Hilgers, Kit Roes and Nigel Stallard

   Published on: 14 June 2016
2. RESEARCH

   The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

   Gareth Baynam, Nicholas Pachter, Fiona McKenzie, Sharon Townshend, Jennie Slee, Cathy Kiraly-Borri, Anand Vasudevan, Anne Hawkins, Stephanie Broley, Lyn Schofield, Hedwig Verhoef, Caroline E. Walker, Caron Molster, Jenefer M. Blackwell, Sarra Jamieson, Dave Tang…

   Published on: 11 June 2016
3. REVIEW

   Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

   Roberto Giugliani, Filippo P. Vairo, Mariluce Riegel, Carolina F. M. de Souza, Ida V. D. Schwartz and Sérgio D. J. Pena

   Published on: 10 June 2016
4. RESEARCH

   Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015

   Timm Greulich, Christoph Nell, Christian Herr, Claus Vogelmeier, Viktor Kotke, Stefan Wiedmann, Marion Wencker, Robert Bals and Andreas Rembert Koczulla

   Published on: 10 June 2016
5. RESEARCH

   Catastrophic expenditure and impoverishment of patients affected by 7 rare diseases in China

   Xiao-Xiong Xin, Xiao-Dong Guan and Lu-Wen Shi

   Published on: 6 June 2016

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