1.
Accesses
1857 |
Review
 
Brachydactyly
Samia A Temtamy, Mona S Aglan
Orphanet Journal of Rare Diseases 2008, 3:15 (13 June 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
|
2.
Accesses
887 |
Review
Corneal dystrophies
Gordon K Klintworth
Orphanet Journal of Rare Diseases 2009, 4:7 (23 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
|
3.
Accesses
822 |
Review
Cri du Chat syndrome
Paola Cerruti Mainardi
Orphanet Journal of Rare Diseases 2006, 1:33 (5 September 2006)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
|
4.
Accesses
680 |
Review
The Exstrophy-epispadias complex
Anne-Karoline Ebert, Heiko Reutter, Michael Ludwig, Wolfgang H Rösch
Orphanet Journal of Rare Diseases 2009, 4:23 (30 October 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
|
5.
Accesses
676 |
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]
|
6.
Accesses
650 |
Review
Gitelman syndrome
Nine VAM Knoers, Elena N Levtchenko
Orphanet Journal of Rare Diseases 2008, 3:22 (30 July 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
|
7.
Accesses
609 |
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] [Cited on BioMed Central]
|
8.
Accesses
574 |
Review
Amelogenesis imperfecta
Peter JM Crawford, Michael Aldred, Agnes Bloch-Zupan
Orphanet Journal of Rare Diseases 2007, 2:17 (4 April 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
|
9.
Accesses
524 |
Review
Rothmund-Thomson syndrome
Lidia Larizza, Gaia Roversi, Ludovica Volpi
Orphanet Journal of Rare Diseases 2010, 5:2 (29 January 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
|
10.
Accesses
513 |
Review
Klinefelter syndrome and other sex chromosomal aneuploidies
Jeannie Visootsak, John M Graham Jr
Orphanet Journal of Rare Diseases 2006, 1:42 (24 October 2006)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
|
11.
Accesses
498 |
Review
Sweet's syndrome  a comprehensive review of an acute febrile neutrophilic dermatosis
Philip R Cohen
Orphanet Journal of Rare Diseases 2007, 2:34 (26 July 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
|
12.
Accesses
493 |
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] [Full Text] [PDF] [PubMed] [Related articles]
|
13.
Accesses
489 |
Review
Hereditary sensory and autonomic neuropathies: types II, III, and IV
Felicia B Axelrod, Gabrielle Gold-von Simson
Orphanet Journal of Rare Diseases 2007, 2:39 (3 October 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
|
14.
Accesses
485 |
Review
Familial adenomatous polyposis
Elizabeth Half, Dani Bercovich, Paul Rozen
Orphanet Journal of Rare Diseases 2009, 4:22 (12 October 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
|
15.
Accesses
472 |
Review
Mixed cryoglobulinemia
Clodoveo Ferri
Orphanet Journal of Rare Diseases 2008, 3:25 (16 September 2008)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
|
16.
Accesses
450 |
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]
|
17.
Accesses
432 |
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] [Cited on BioMed Central]
|
18.
Accesses
422 |
Review
Osteopetrosis
Zornitza Stark, Ravi Savarirayan
Orphanet Journal of Rare Diseases 2009, 4:5 (20 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
|
19.
Accesses
413 |
Review
Retinitis pigmentosa
Christian Hamel
Orphanet Journal of Rare Diseases 2006, 1:40 (11 October 2006)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
|
20.
Accesses
407 |
Review
Ehlers-Danlos syndrome type IV
Dominique P Germain
Orphanet Journal of Rare Diseases 2007, 2:32 (19 July 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
|
