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  • Thumbnail for Hereditary cancer syndrome
    "Nevoid basal cell carcinoma syndrome (Gorlin syndrome)". Orphanet Journal of Rare Diseases. 3: 32. doi:10.1186/1750-1172-3-32. PMC 2607262. PMID 19032739...
    51 KB (5,582 words) - 14:19, 15 July 2024
  • coding for rare diseases List of rare disease organisations Orphanet Journal of Rare Diseases (academic journal) Rare Disease Day Idiopathic disease Mystery...
    25 KB (2,427 words) - 17:11, 7 September 2024
  • Thumbnail for Tongue splitting
    Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI". Orphanet Journal of Rare Diseases. 7: 4. doi:10.1186/1750-1172-7-4. ISSN 1750-1172. PMC 3313869...
    12 KB (1,461 words) - 17:25, 3 September 2024
  • Thumbnail for Fibroblast growth factor 23
    its role in X-linked hypophosphatemia-related morbidity". Orphanet Journal of Rare Diseases. 14 (1): 58. doi:10.1186/s13023-019-1014-8. ISSN 1750-1172...
    17 KB (1,856 words) - 05:05, 7 September 2024
  • Thumbnail for Moncef Slaoui
    through adaptive approaches: features and perspectives". Orphanet Journal of Rare Diseases. 9 (1): 20. doi:10.1186/1750-1172-9-20. PMC 3923002. PMID 24513034...
    40 KB (3,442 words) - 20:16, 25 August 2024
  • Thumbnail for Microcephaly
    and treatment of tetrahydrobiopterin (BH4) deficiencies". Orphanet Journal of Rare Diseases. 15 (1): 126. doi:10.1186/s13023-020-01379-8. PMC 7251883...
    45 KB (4,208 words) - 02:45, 31 July 2024
  • Thumbnail for Small-cell carcinoma
    bladder cancer--small cell carcinoma: review and update". Orphanet Journal of Rare Diseases. 6 (75): 75. doi:10.1186/1750-1172-6-75. PMC 3253713. PMID 22078012...
    54 KB (5,535 words) - 14:41, 10 September 2024
  • Thumbnail for Albinism in humans
    Brondum-Nielsen, K. (2 November 2007). "Oculocutaneous albinism". Orphanet Journal of Rare Diseases. 2: 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020...
    39 KB (3,838 words) - 18:43, 1 September 2024
  • Thumbnail for Intersex
    (2007). "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome". Orphanet Journal of Rare Diseases. 2 (1): 13. doi:10.1186/1750-1172-2-13. PMC 1832178. PMID 17359527...
    155 KB (14,614 words) - 04:45, 11 September 2024
  • Thumbnail for Glycogen storage disease
    McArdle disease and other muscle glycogenoses (EUROMAC)". Orphanet Journal of Rare Diseases. 15 (1): 330. doi:10.1186/s13023-020-01562-x. ISSN 1750-1172...
    68 KB (6,092 words) - 16:38, 9 September 2024
  • Thumbnail for Mesothelioma
    RJ, Wiggins J (December 2008). "Malignant mesothelioma". Orphanet Journal of Rare Diseases. 3: 34. doi:10.1186/1750-1172-3-34. PMC 2652430. PMID 19099560...
    96 KB (10,664 words) - 05:52, 10 September 2024
  • Thumbnail for Gene therapy
    PMID 20844535. Galanello R, Origa R (May 2010). "Beta-thalassemia". Orphanet Journal of Rare Diseases. 5: 11. doi:10.1186/1750-1172-5-11. PMC 2893117. PMID 20492708...
    174 KB (17,957 words) - 06:53, 7 September 2024
  • reimbursement of orphan drugs: the need for more transparency". Orphanet Journal of Rare Diseases. 6: 42. doi:10.1186/1750-1172-6-42. ISSN 1750-1172. PMC 3132155...
    82 KB (9,033 words) - 16:32, 30 July 2024
  • Thumbnail for Facioscapulohumeral muscular dystrophy
    with regard to recent therapeutic approaches: an update". Orphanet Journal of Rare Diseases. 16 (1): 129. doi:10.1186/s13023-021-01760-1. PMC 7953708...
    174 KB (16,320 words) - 23:53, 3 September 2024