1.
Accesses
931 |
Review
 
Beta-thalassemia
Renzo Galanello, Raffaella Origa
Orphanet Journal of Rare Diseases 2010, 5:11 (21 May 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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2.
Accesses
916 |
Review
Hereditary combined deficiency of the vitamin K-dependent clotting factors
Mariasanta Napolitano, Guglielmo Mariani, Mario Lapecorella
Orphanet Journal of Rare Diseases 2010, 5:21 (14 July 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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3.
Accesses
690 |
Review
Congenital hypothyroidism
Maynika V Rastogi, Stephen H LaFranchi
Orphanet Journal of Rare Diseases 2010, 5:17 (10 June 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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4.
Accesses
664 |
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] [Provisional PDF] [PubMed] [Related articles]
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5.
Accesses
642 |
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]
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6.
Accesses
542 |
Review
Joubert Syndrome and related disorders
Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente
Orphanet Journal of Rare Diseases 2010, 5:20 (8 July 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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7.
Accesses
534 |
Review
A review of trisomy X (47,XXX)
Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson, Lennie Wilson
Orphanet Journal of Rare Diseases 2010, 5:8 (11 May 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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8.
Accesses
521 |
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]
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9.
Accesses
519 |
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]
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10.
Accesses
518 |
Review
Niemann-Pick disease type C
Marie T Vanier
Orphanet Journal of Rare Diseases 2010, 5:16 (3 June 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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11.
Accesses
440 |
Review
 -thalassaemia
Cornelis L Harteveld, Douglas R Higgs
Orphanet Journal of Rare Diseases 2010, 5:13 (28 May 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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12.
Accesses
430 |
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]
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13.
Accesses
398 |
Review
Silver-Russell syndrome: genetic basis and molecular genetic testing
Thomas Eggermann, Matthias Begemann, Gerhard Binder, Sabrina Spengler
Orphanet Journal of Rare Diseases 2010, 5:19 (23 June 2010)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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14.
Accesses
383 |
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]
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15.
Accesses
372 |
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]
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16.
Accesses
366 |
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]
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17.
Accesses
364 |
Review
Corneal dystrophies
Gordon K Klintworth
Orphanet Journal of Rare Diseases 2009, 4:7 (23 February 2009)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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18.
Accesses
363 |
Review
Noonan syndrome
Ineke van der Burgt
Orphanet Journal of Rare Diseases 2007, 2:4 (14 January 2007)
[Abstract] [Full Text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
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19.
Accesses
363 |
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]
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20.
Accesses
359 |
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]
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