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Member - Orphanet

Orphanet is the European portal dedicated to information on rare diseases and orphan drugs for patients and their families, health professionals and researchers, support groups and industry. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases. Orphanet provides an encyclopaedia of rare diseases, a directory of services in Europe including specialised clinics, clinical laboratories, research projects, registries, clinical trials and support groups concerning rare diseases and publishes an on-line newsletter. Orphanet is run by a consortium of European partners. It is managed by INSERM and funded by INSERM, the French Ministry of Health and the European Commission (DG Public Health).

http://www.orpha.net/

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Work published with BioMed Central, Chemistry Central and SpringerOpen by researchers at Orphanet

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	1.	Reviewer Acknowledgement Reviewer acknowledgement 2013 Ségolène Aymé Orphanet Journal of Rare Diseases 2013, 8:39 (28 March 2013) Abstract \| Full text \| PDF \| PubMed
	2.	Letter to the Editor SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe Nathalie Kayadjanian, Arthur Burghes, Richard S Finkel, Eugenio Mercuri, Francoise Rouault, Inge Schwersenz, Kevin Talbot Orphanet Journal of Rare Diseases 2013, 8:44 (20 March 2013) Abstract \| Full text \| PDF \| PubMed
	3.	Meeting abstract Professional clinical guidelines for rare diseases: methodology Odile Kremp, Patrice Dosquet, Ana Rath Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A12 (22 November 2012) Full text \| PDF
	4.	Meeting abstract State of the art of rare disease activities in Europe: a EUCERD perspective Ségolène Aymé Orphanet Journal of Rare Diseases 2012, 7(Suppl 2):A1 (22 November 2012) Full text \| PDF
	5.	Review Past, present and future of hemophilia: a narrative review Massimo Franchini, Pier Mannucci Orphanet Journal of Rare Diseases 2012, 7:24 (2 May 2012) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	6.	Review Behçet's disease David Saadoun, Bertrand Wechsler Orphanet Journal of Rare Diseases 2012, 7:20 (12 April 2012) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	7.	Review Nijmegen breakage syndrome (NBS) Krystyna H Chrzanowska, Hanna Gregorek, Bożenna Dembowska-Bagińska, Maria A Kalina, Martin Digweed Orphanet Journal of Rare Diseases 2012, 7:13 (28 February 2012) Abstract \| Full text \| PDF \| PubMed
	8.	Review Congenital Diaphragmatic Hernia Juan A Tovar Orphanet Journal of Rare Diseases 2012, 7:1 (3 January 2012) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	9.	Review Laryngo-tracheo-oesophageal clefts Nicolas Leboulanger, Eréa-Noël Garabédian Orphanet Journal of Rare Diseases 2011, 6:81 (7 December 2011) Abstract \| Full text \| PDF \| PubMed
	10.	Review Xeroderma pigmentosum Alan R Lehmann, David McGibbon, Miria Stefanini Orphanet Journal of Rare Diseases 2011, 6:70 (1 November 2011) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	11.	Review Congenital hyperinsulinism: current trends in diagnosis and therapy Jean-Baptiste Arnoux, Virginie Verkarre, Cécile Saint-Martin, Françoise Montravers, Anaïs Brassier, Vassili Valayannopoulos, Francis Brunelle, Jean-Christophe Fournet, Jean-Jacques Robert, Yves Aigrain, Christine Bellanné-Chantelot, Pascale de Lonlay Orphanet Journal of Rare Diseases 2011, 6:63 (3 October 2011) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	12.	Review Atypical hemolytic uremic syndrome Chantal Loirat, Véronique Frémeaux-Bacchi Orphanet Journal of Rare Diseases 2011, 6:60 (8 September 2011) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	13.	Review Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics Nathaniel Whaley, Shinsuke Fujioka, Zbigniew K Wszolek Orphanet Journal of Rare Diseases 2011, 6:33 (28 May 2011) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	14.	Review Glucose-6-phosphatase deficiency Roseline Froissart, Monique Piraud, Alix Boudjemline, Christine Vianey-Saban, François Petit, Aurélie Hubert-Buron, Pascale Eberschweiler, Vincent Gajdos, Philippe Labrune Orphanet Journal of Rare Diseases 2011, 6:27 (20 May 2011) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	15.	Review Congenitally corrected transposition Gonzalo A Wallis, Diane Debich-Spicer, Robert H Anderson Orphanet Journal of Rare Diseases 2011, 6:22 (14 May 2011) Abstract \| Full text \| PDF \| PubMed
	16.	Review Huntington's disease: a clinical review Raymund AC Roos Orphanet Journal of Rare Diseases 2010, 5:40 (20 December 2010) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	17.	Review Fabry disease Dominique P Germain Orphanet Journal of Rare Diseases 2010, 5:30 (22 November 2010) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
	18.	Oral presentation The European Union Committee of Experts on Rare Diseases (EUCERD): a new committee to help the European Commission advance in the field of rare disease policy Antoni Moliner, Ségolène Aymé Orphanet Journal of Rare Diseases 2010, 5(Suppl 1):O28 (19 October 2010) Full text \| PDF
	19.	Poster presentation New functionalities in Orphanet for orphan drugs, R&D and marketing authorisations to better serve the rare diseases community Virginie Hivert, Natalia Martin, Marc Hanauer, Ségolène Aymé Orphanet Journal of Rare Diseases 2010, 5(Suppl 1):P25 (19 October 2010) Full text \| PDF
	20.	Oral presentation Classification of rare diseases: a worldwide effort to contribute to the International Classification of Diseases Ana Rath, Ségolène Aymé, Bertrand Bellet Orphanet Journal of Rare Diseases 2010, 5(Suppl 1):O21 (19 October 2010) Full text \| PDF
	21.	Poster presentation Rare diseases research in Europe: an overview based on data from the Orphanet database Natalia Martin, Nicolas Doulet, Virginie Hivert, Ségolène Aymé Orphanet Journal of Rare Diseases 2010, 5(Suppl 1):P5 (19 October 2010) Full text \| PDF
	22.	Poster presentation Genetic testing in Europe: transborder testing is a necessity Mariana Jovanovic, Els Dequeker, Lieve Desmet, Michael Morris, Jean-Jacques Cassiman, Ségolène Aymé Orphanet Journal of Rare Diseases 2010, 5(Suppl 1):P4 (19 October 2010) Full text \| PDF
	23.	Oral presentation State of the art of services in Europe: where are the problems? Ségolène Aymé Orphanet Journal of Rare Diseases 2010, 5(Suppl 1):O2 (19 October 2010) Full text \| PDF
	24.	Poster presentation WHO International Classification of Diseases (ICD) Revision Process: incorporating rare diseases into the classification scheme: state of art Ségolène Aymé, Ana Rath, Bertrand Bellet Orphanet Journal of Rare Diseases 2010, 5(Suppl 1):P1 (19 October 2010) Full text \| PDF
	25.	Review Interstitial lung diseases in children Annick Clement, Nadia Nathan, Ralph Epaud, Brigitte Fauroux, Harriet Corvol Orphanet Journal of Rare Diseases 2010, 5:22 (20 August 2010) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central