Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page







Orphanet

1. 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
2. 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
3. RESEARCH

   Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

   Willem G. van Ginkel, Rianne Jahja, Stephan C. J. Huijbregts, Anne Daly, Anita MacDonald, Corinne De Laet, David Cassiman, François Eyskens, Irene M. L. W. Körver-Keularts, Philippe J. Goyens, Patrick J. McKiernan and Francjan J. van Spronsen

   Published on: 29 June 2016
4. RESEARCH

   Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease

   Malte Lenders, Julia B. Hennermann, Christine Kurschat, Arndt Rolfs, Sima Canaan-Kühl, Claudia Sommer, Nurcan Üçeyler, Christoph Kampmann, Nesrin Karabul, Anne-Katrin Giese, Thomas Duning, Jörg Stypmann, Johannes Krämer, Frank Weidemann, Stefan-Martin Brand, Christoph Wanner…

   Published on: 29 June 2016
5. REVIEW

   The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases

   Beth G. Gibson and Michael D. Briggs

   Published on: 28 June 2016

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