Editors-in-Chief: Ségolène Aymé, Inserm, Hôpital Broussais; Bruno Dallapiccola, Istituto CSS-Mendel; Dian Donnai, The University of Manchester
The official journal of Orphanet, the European portal for rare diseases and orphan drugs
Orphanet Journal of Rare Diseases is an open access, online journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high quality reviews solicited from experts in the field and also considers research on new syndromes and results of clinical trials of exceptional interest.
Latest articles
Review
Neurofibromatosis type 2 (NF2): A clinical and molecular review
D Gareth R Evans
Orphanet Journal of Rare Diseases 2009, 4:16 (19 June 2009)
[Abstract] [Provisional PDF] [PubMed] [Related articles]
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Case Report
Triptans and troponin: a case report
Claudia R Weder, Markus Schneemann
Orphanet Journal of Rare Diseases 2009, 4:15 (18 June 2009)
[Abstract] [Provisional PDF] [PubMed] [Related articles]
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Research
Cardiac magnetic resonance imaging in Alström syndrome
Margaret A Loudon, Nicholas G Bellenger, Catherine M Carey, Richard B Paisey
Orphanet Journal of Rare Diseases 2009, 4:14 (10 June 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Case Report
Multisegmental spondylitis due to Tropheryma whipplei: Case report
David Spoerl, Diego Bär, Julian Cooper, Thomas Vogt, Alan Tyndall, Ulrich A Walker
Orphanet Journal of Rare Diseases 2009, 4:13 (3 June 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Research
Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report
Sabri Denden, Michele Zorzetto, Fethi Amri, Jalel Knani, Stefania Ottaviani, Roberta Scabini, Marina Gorrini, Ilaria Ferrarotti, Ilaria Campo, Jemni Ben Chibani, Amel Haj Khelil, Maurizio Luisetti
Orphanet Journal of Rare Diseases 2009, 4:12 (15 April 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Review
Sheldon-Hall syndrome
Reha M Toydemir, Michael J Bamshad
Orphanet Journal of Rare Diseases 2009, 4:11 (23 March 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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