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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