• Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert...
    10 KB (1,089 words) - 15:04, 23 June 2024
  • The Orphanet Journal of Rare Diseases is a peer-reviewed open access medical journal covering research on rare diseases. It was established in 2006 and...
    3 KB (229 words) - 13:49, 27 September 2023
  • 1576. PMID 11579431. "Orphanet: Autosomal recessive limb girdle muscular dystrophy". www.orpha.net. Retrieved 2019-04-16. "Orphanet: Autosomal dominant...
    42 KB (983 words) - 18:14, 6 October 2024
  • Thumbnail for Pili multigemini
    List of cutaneous conditions Camacho-Martínez, Francisco (May 2012). "Orphanet: Pili gemini". www.orpha.net. Retrieved 30 January 2020. McElwee, Kevin...
    3 KB (278 words) - 12:05, 15 July 2024
  • Thumbnail for Ring chromosome
    www.orpha.net. "Orphanet: Ring chromosome 4 syndrome". www.orpha.net. "Orphanet: Ring chromosome 5 syndrome". www.orpha.net. "Orphanet: Ring chromosome...
    15 KB (792 words) - 20:56, 31 October 2024
  • Thumbnail for Arthrogryposis
    seizures - migrational brain disorder". Orphanet. Archived from the original on 2019-04-08. Retrieved 2008-08-10.ORPHANET - About rare diseases - About orphan...
    35 KB (3,588 words) - 19:20, 22 July 2024
  • Thumbnail for Hemiplegic migraine
    to be affected than males.[citation needed] "Orphanet: Familial or sporadic hemiplegic migraine". Orphanet. 2024-05-28. Retrieved 2024-06-11. "What is...
    7 KB (691 words) - 09:11, 19 June 2024
  • Thumbnail for Sanfilippo syndrome
    clinical care". Orphanet Journal of Rare Diseases. 17 (1): 391. doi:10.1186/s13023-022-02484-6. PMC 9612603. PMID 36303195. "Orphanet: Mucopolysaccharidosis...
    44 KB (5,110 words) - 20:17, 5 November 2024
  • Thumbnail for Methylmalonic acidemias
    Orphanet. Retrieved 2024-04-27. "Imerslund-Gräsbeck syndrome". Orphanet. Retrieved 2024-04-27. "Congenital intrinsic factor deficiency". Orphanet. Retrieved...
    48 KB (4,435 words) - 15:54, 30 October 2024
  • Thumbnail for Brachydactyly type D
    PMID 14295653. Temtamy, Samia A; Aglan, Mona S (2008-06-13). "Brachydactyly". Orphanet Journal of Rare Diseases. 3: 15. doi:10.1186/1750-1172-3-15. ISSN 1750-1172...
    8 KB (776 words) - 05:17, 26 October 2024