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Latest articles        [more info]
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]

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]

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]

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]

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]

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]

Research    
Early treatment with noninvasive positive pressure ventilation prolongs survival in Amyotrophic Lateral Sclerosis patients with nocturnal respiratory insufficiency
Pierluigi Carratù, Lucia Spicuzza, Anna Cassano, Mauro Maniscalco, Felice Gadaleta, Donato Lacedonia, Cristina Scoditti, Ester Boniello, Giuseppe Di Maria, Onofrio Resta
Orphanet Journal of Rare Diseases 2009, 4:10 (10 March 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review    
Jacobsen syndrome
Teresa Mattina, Concetta Simona Perrotta, Paul Grossfeld
Orphanet Journal of Rare Diseases 2009, 4:9 (7 March 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Case Report    
Pulmonary hemorrhage syndrome associated with dengue fever, High-resolution computed tomography findings: a case report
Edson Marchiori, José Luiz N Ferreira, Carolina N Bittencourt, César A de Araújo Neto, Gláucia Zanetti, Cláudia M Mano, Alair ASD Santos, Alberto D Vianna
Orphanet Journal of Rare Diseases 2009, 4:8 (5 March 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review    
Corneal dystrophies
Gordon K Klintworth
Orphanet Journal of Rare Diseases 2009, 4:7 (23 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Research    
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia
Amélie Reibel, Marie-Cécile Manière, François Clauss, Dominique Droz, Yves Alembik, Etienne Mornet, Agnès Bloch-Zupan
Orphanet Journal of Rare Diseases 2009, 4:6 (21 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review    
Osteopetrosis
Zornitza Stark, Ravi Savarirayan
Orphanet Journal of Rare Diseases 2009, 4:5 (20 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review    
Distal Xq duplication and functional Xq disomy
Damien Sanlaville, Caroline Schluth-Bolard, Catherine Turleau
Orphanet Journal of Rare Diseases 2009, 4:4 (20 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review    
Amyotrophic lateral sclerosis
Lokesh C Wijesekera, P Nigel Leigh
Orphanet Journal of Rare Diseases 2009, 4:3 (3 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review    
Tetralogy of Fallot
Frederique Bailliard, Robert H Anderson
Orphanet Journal of Rare Diseases 2009, 4:2 (13 January 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review    
Progressive familial intrahepatic cholestasis
Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan, Emmanuel Jacquemin
Orphanet Journal of Rare Diseases 2009, 4:1 (8 January 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review    
Malignant mesothelioma
Alastair J Moore, Robert J Parker, John Wiggins
Orphanet Journal of Rare Diseases 2008, 3:34 (19 December 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Research    
Incentives for orphan drug research and development in the United States
Enrique Seoane-Vazquez, Rosa Rodriguez-Monguio, Sheryl L Szeinbach, Jay Visaria
Orphanet Journal of Rare Diseases 2008, 3:33 (16 December 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review    
Nevoid basal cell carcinoma syndrome (Gorlin syndrome)
Lorenzo Lo Muzio
Orphanet Journal of Rare Diseases 2008, 3:32 (25 November 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

Review    
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia
Martin J Barron, Sinead T McDonnell, Iain MacKie, Michael J Dixon
Orphanet Journal of Rare Diseases 2008, 3:31 (20 November 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]

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