Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

The following new articles have just been published in Orphanet Journal of Rare Diseases

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1. RESEARCH

   Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

   Aisha Al-Shamsi, Jozef L. Hertecant, Abdul-Kader Souid and Fatma A. Al-Jasmi

   Published on: 8 July 2016
2. RESEARCH

   Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation

   Mona Schmidt, Sandra Breyer, Ulrike Löbel, Sinef Yarar, Ralf Stücker, Kurt Ullrich, Ingo Müller and Nicole Muschol

   Published on: 8 July 2016
3. RESEARCH

   MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

   C. Fiorillo, G. Astrea, M. Savarese, D. Cassandrini, G. Brisca, F. Trucco, M. Pedemonte, R. Trovato, L. Ruggiero, L. Vercelli, A. D’Amico, G. Tasca, M. Pane, M. Fanin, L. Bello, P. Broda…

   Published on: 7 July 2016
4. RESEARCH

   FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset

   Haiming Yuan, Linhuan Huang, Xizi Hu, Qian Li, Xiaofang Sun, Yingjun Xie, Shu Kong and Xiaoman Wang

   Published on: 2 July 2016
5. RESEARCH

   TRNT1 deficiency: clinical, biochemical and molecular genetic features

   Yehani Wedatilake, Rojeen Niazi, Elisa Fassone, Christopher A. Powell, Sarah Pearce, Vincent Plagnol, José W. Saldanha, Robert Kleta, W Kling Chong, Emma Footitt, Philippa B. Mills, Jan-Willem Taanman, Michal Minczuk, Peter T. Clayton and Shamima Rahman

   Published on: 2 July 2016

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