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| | Latest articles  [more info]
| Review
Adaptive design methods in clinical trials - a review
Shein-Chung Chow, Mark Chang
Orphanet Journal of Rare Diseases 2008, 3:11 (2 May 2008)
[Abstract] [Provisional PDF] [PubMed] [Related articles]
Review
The Greig cephalopolysyndactyly syndrome
Leslie G Biesecker
Orphanet Journal of Rare Diseases 2008, 3:10 (24 April 2008)
[Abstract] [Provisional PDF] [PubMed] [Related articles]
Review
Brown-Vialetto-Van Laere syndrome
Sivakumar Sathasivam
Orphanet Journal of Rare Diseases 2008, 3:9 (17 April 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Idiopathic pulmonary fibrosis
Eric B Meltzer, Paul W Noble
Orphanet Journal of Rare Diseases 2008, 3:8 (26 March 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Hereditary sensory neuropathy type I
Michaela Auer-Grumbach
Orphanet Journal of Rare Diseases 2008, 3:7 (18 March 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Syndromic (phenotypic) diarrhea in early infancy
Olivier Goulet, Christine Vinson, Bertrand Roquelaure, Nicole Brousse, Christine Bodemer, Jean-Pierre Cézard
Orphanet Journal of Rare Diseases 2008, 3:6 (28 February 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Primary intestinal lymphangiectasia (Waldmann's disease)
Stéphane Vignes, Jérôme Bellanger
Orphanet Journal of Rare Diseases 2008, 3:5 (22 February 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Monosomy 18p
Catherine Turleau
Orphanet Journal of Rare Diseases 2008, 3:4 (19 February 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Multiple osteochondromas
Judith VMG Bovée
Orphanet Journal of Rare Diseases 2008, 3:3 (13 February 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Case Report
Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?
Virginie Levrat, Isabelle Forest, Alain Fouilhoux, Cécile Acquaviva, Christine Vianey-Saban, Nathalie Guffon
Orphanet Journal of Rare Diseases 2008, 3:2 (30 January 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Primary biliary cirrhosis
Teru Kumagi, E Jenny Heathcote
Orphanet Journal of Rare Diseases 2008, 3:1 (23 January 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Case Report
Alstrom syndrome (OMIM 203800): a case report and literature review
Tisha Joy, Henian Cao, Graeme Black, Rayaz Malik, Valentine Charlton-Menys, Robert A Hegele, Paul N Durrington
Orphanet Journal of Rare Diseases 2007, 2:49 (21 December 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
Rosa J Torres, Juan G Puig
Orphanet Journal of Rare Diseases 2007, 2:48 (8 December 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Anophthalmia and microphthalmia
Amit S Verma, David R FitzPatrick
Orphanet Journal of Rare Diseases 2007, 2:47 (26 November 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Sarcoidosis
Hilario Nunes, Diane Bouvry, Paul Soler, Dominique Valeyre
Orphanet Journal of Rare Diseases 2007, 2:46 (19 November 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Arrhythmogenic right ventricular cardiomyopathy/dysplasia
Gaetano Thiene, Domenico Corrado, Cristina Basso
Orphanet Journal of Rare Diseases 2007, 2:45 (14 November 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Myasthenia gravis
Vern C Juel, Janice M Massey
Orphanet Journal of Rare Diseases 2007, 2:44 (6 November 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Oculocutaneous albinism
Karen Grønskov, Jakob Ek, Karen Brondum-Nielsen
Orphanet Journal of Rare Diseases 2007, 2:43 (2 November 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Mowat-Wilson syndrome
Livia Garavelli, Paola Cerruti Mainardi
Orphanet Journal of Rare Diseases 2007, 2:42 (24 October 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
Review
Aorto-ventricular tunnel
Roxane McKay
Orphanet Journal of Rare Diseases 2007, 2:41 (8 October 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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