Rare diseases || Updates on Specific Diseases

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Last Posted: Mar 01, 2018

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• Preventing gatekeeping delays in the diagnosis of rare diseases.  
  de Vries Esther et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2018 Mar 68(668) 145-146
• Rare Disease Day - rare diseases aren't rare  
  Genomics England, Feb 28, 2018
• RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases  
  H Lochmuller et al, Eur J Hum Genetics, Feb 27, 2018
• TRAPPED - an insight into two sisters' struggle to access treatment for a rare genetic disease.  
  Al-Attar Mariam et al. Orphanet journal of rare diseases 2018 Feb 13(1) 37
• Rare Disease Day – rare diseases aren’t rare  
  Genomics England, Feb 28, 2018
• Rare Disease Day Spotlight on PLOS Authors: Open Data Repositories in Practice  
  PLOS Blogs, Feb 2018

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