Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page





Orphanet Journal of Rare Diseases

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1. REVIEW

   Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

   Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi and Marco Crimi

   Published on: 11 April 2017
2. REVIEW

   Cardiac pathology in spinal muscular atrophy: a systematic review

   C. A. Wijngaarde, A. C. Blank, M. Stam, R. I. Wadman, L. H. van den Berg and W. L. van der Pol

   Published on: 11 April 2017
3. RESEARCH

   Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

   Yvonne Zurynski, Marie Deverell, Troy Dalkeith, Sandra Johnson, John Christodoulou, Helen Leonard and Elizabeth J Elliott

   Published on: 11 April 2017
4. RESEARCH

   Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions

   Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran and Tahir Sultan Shamsi

   Published on: 7 April 2017
5. REVIEW

   Xeroderma pigmentosum-Cockayne syndrome complex

   Valerie Natale and Hayley Raquer

   Published on: 4 April 2017

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