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Did you mean orphan t of rare dis (182 results)?
The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data.
Kishnani PS, Seefried L, Ozono K, Martos-Moreno GÁ, Rockman-Greenberg C, Fowler D, Burke LK, Mowrey WR, Rush ET, Ebeling PR, Högler W, Linglart A, Fang S, Petryk A, Dahir KM. Kishnani PS, et al. Orphanet J Rare Dis. 2025 Nov 24;20(1):626. doi: 10.1186/s13023-025-04129-w. Orphanet J Rare Dis. 2025. PMID: 41286962 Free PMC article. Review.
Exercise capacity in RYR1-related myopathies.
Chin LMK, Todd JJ, Chrismer IC, Witherspoon JW, Jain M, Waite M, Meilleur KG, Drinkard B, Lawal TA. Chin LMK, et al. Orphanet J Rare Dis. 2025 Sep 24;20(1):485. doi: 10.1186/s13023-025-04013-7. Orphanet J Rare Dis. 2025. PMID: 40993798 Free PMC article. Clinical Trial.
Exploring the uncharted role of cell senescence in rare diseases.
Selvaggio P, Taci E, Barassi A, Massa V, Gervasini C, Lesma E, Bernardelli C, Di Fede E. Selvaggio P, et al. Orphanet J Rare Dis. 2025 Sep 1;20(1):465. doi: 10.1186/s13023-025-03778-1. Orphanet J Rare Dis. 2025. PMID: 40890826 Free PMC article. Review.
ERNICA evidence based guideline on omphalocele.
Irvine W, Kamp LMV, Spivack O, Wijnen R, Sgrò A, Brendel J, Zahn K, Matthyssens L, Gustafson E, Røkkum H, Migliazza L, Sfeir R, Mutanen A, Rolle U, Dariel A, Miserez M, Lukosiute-Urboniene A, Vivanti A, Peters N, Conner P, Machtejevienė E, Russo F, Torres AS, Kokešová A, Stensvold HJ, Kipfmueller F, Boukhris MR, Tognon C, Eaton S, den Uijl I, Benachi A, Burgos CM. Irvine W, et al. Orphanet J Rare Dis. 2026 Mar 7;21(1):193. doi: 10.1186/s13023-026-04293-7. Orphanet J Rare Dis. 2026. PMID: 41794806 Free PMC article. Review.
Management of hereditary angioedema with normal C1Inh: a series of 163 French patients.
Bocquet A, Bouillet L, Hardy G, Boccon-Gibod I, Deroux A, Arnaud M, Pelletier F, Thanh AD, Ozanne N, Armengol G, Jeandel PY, Sailler L, Taquet MC, Launay D, Fain O, Gobert D. Bocquet A, et al. Orphanet J Rare Dis. 2025 Dec 2;21(1):5. doi: 10.1186/s13023-025-04155-8. Orphanet J Rare Dis. 2025. PMID: 41331604 Free PMC article.
5,066 results