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- Orphanet (section Orphanet Journal of Rare Diseases)administrative office is in Paris and its official medical journal is the Orphanet Journal of Rare Diseases published on its behalf by BioMed Central. As of October 2020[update]...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
Dag; Nilssen, Øivind (December 2008). "Alpha-mannosidosis". Orphanet Journal of Rare Diseases. 3 (1): 21. doi:10.1186/1750-1172-3-21. ISSN 1750-1172. PMC 2515294...5 KB (490 words) - 23:29, 13 August 2024
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. PMC 2441618...8 KB (774 words) - 04:43, 21 June 2024
proteins in Anderson's disease (Chylomicron retention disease)". Orphanet Journal of Rare Diseases. 6: 1. doi:10.1186/1750-1172-6-1. PMC 3029219. PMID 21235735...19 KB (1,990 words) - 03:26, 23 April 2024
"Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update". Orphanet Journal of Rare Diseases. 15 (1): 214. doi:10.1186/s13023-020-01491-9. ISSN 1750-1172...7 KB (496 words) - 02:49, 12 June 2024
challenges caregivers face was published July 2019 in the Orphanet Journal of Rare Diseases by a group of international clinical advisors with expertise...46 KB (5,317 words) - 18:53, 10 September 2024
patients: first report of large deletions in the ABHD5 gene". Orphanet Journal of Rare Diseases. 5 (1): 33. doi:10.1186/1750-1172-5-33. ISSN 1750-1172. PMC 3019207...7 KB (567 words) - 09:10, 27 December 2023
children with phosphomannomutase-deficiency (PMM2-CDG)". Orphanet Journal of Rare Diseases. 12 (1): 155. doi:10.1186/s13023-017-0707-0. PMC 5602850....9 KB (902 words) - 08:06, 3 December 2023
S2CID 33436277. Nurden, Alan T (2006). "Glanzmann thrombasthenia". Orphanet Journal of Rare Diseases. 1: 10. doi:10.1186/1750-1172-1-10. PMC 1475837. PMID 16722529...10 KB (1,027 words) - 15:47, 4 May 2024- (selective vitamin B12 malabsorption with proteinuria)". Orphanet Journal of Rare Diseases. 1 (1): 17. doi:10.1186/1750-1172-1-17. PMC 1513194. PMID 16722557...19 KB (2,193 words) - 02:46, 6 November 2023
- centromeric region instability, facial anomalies syndrome (ICF)". Orphanet Journal of Rare Diseases. 1 (1): 2. doi:10.1186/1750-1172-1-2. ISSN 1750-1172. PMC 1459120...6 KB (563 words) - 20:42, 3 December 2023
- "Orphanet Journal of Rare Diseases | Full text | Innovation by patients with rare diseases and chronic needs". Orphanet Journal of Rare Diseases. 10...14 KB (1,593 words) - 12:50, 3 December 2023
J, Schachter H (August 2006). "Walker-Warburg syndrome". Orphanet Journal of Rare Diseases. 1: 29. doi:10.1186/1750-1172-1-29. PMC 1553431. PMID 16887026...8 KB (682 words) - 05:46, 6 July 2024
Hereditary Neuropathy with liability to Pressure Palsies". Orphanet Journal of Rare Diseases. 9 (1): 38. doi:10.1186/1750-1172-9-38. ISSN 1750-1172. PMC 3994927...11 KB (1,115 words) - 14:56, 21 August 2024- of the year, the complete guidelines were published in the Orphanet Journal of Rare Diseases. The publication also received some critical attention from...9 KB (979 words) - 17:46, 24 August 2024
follicularis, alopecia, and photophobia (IFAP) syndrome". Orphanet Journal of Rare Diseases. 6: 29. doi:10.1186/1750-1172-6-29. ISSN 1750-1172. PMC 3127745...3 KB (281 words) - 23:53, 2 December 2023
phenotype and first description of a male mosaic patient". Orphanet Journal of Rare Diseases. 7 (18): 18. doi:10.1186/1750-1172-7-18. PMC 3351739. PMID 22452838...19 KB (2,043 words) - 02:42, 13 July 2024
M, Bloch-Zupan A (April 2007). "Amelogenesis imperfecta". Orphanet Journal of Rare Diseases. 2 (1): 17. doi:10.1186/1750-1172-2-17. PMC 1853073. PMID 17408482...21 KB (2,439 words) - 19:46, 9 May 2024
Solomon, BD (Aug 16, 2011). "VACTERL/VATER Association". Orphanet Journal of Rare Diseases. 6: 56. doi:10.1186/1750-1172-6-56. PMC 3169446. PMID 21846383...13 KB (1,403 words) - 16:46, 22 May 2024
- in management of idiopathic pulmonary hemosiderosis”, in Orphanet Journal of Rare Diseases[1], volume 10, →DOI: Rare treatment options like intravenous
- Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet journal of rare diseases. 2011 Dec;6(1):1-0. 3. Robertson RJ, Goss FL, ANDREACCI JL