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Orphanet Journal of Rare Diseases|August 11, 2016
Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort studyEun-Kyung Cho, Jinsup Kim, Aram Yang, et al.
Orphanet Journal of Rare Diseases|August 27, 2025
Health-related quality of life of adults with generalized pustular psoriasis in Malaysia: a cross-sectional studyXin Qian Seah, Siew Chin Ong, Mustapha Mohammed, et al.
Orphanet Journal of Rare Diseases|July 15, 2020
Evolution of Haemophilia Care in Europe: 10 years of the principles of careD Noone, B O'Mahony, F Peyvandi, et al.
Orphanet Journal of Rare Diseases|July 22, 2020
Are supplemental appraisal/reimbursement processes needed for rare disease treatments? An international comparison of country approachesElena Nicod, Amanda Whittal, Michael Drummond, et al.
Orphanet Journal of Rare Diseases|May 10, 2023
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task ForceRima Nabbout, Galliano Zanello, Dixie Baker, et al.
Orphanet Journal of Rare Diseases|May 19, 2023
Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptionsGry Velvin, Heidi Johansen, Amy Østertun-Geirdal, et al.
Orphanet Journal of Rare Diseases|June 25, 2015
Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational studyNicola C Edwards, William E Moody, Mengshi Yuan, et al.
Orphanet Journal of Rare Diseases|August 28, 2025
Congenital melanocytic nevi in Bardet-Biedl syndromeKarli Shelton, Phu Dang, Courtney McCorkle, et al.
Orphanet Journal of Rare Diseases|July 19, 2015
Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training programLinda E M van den Berg, Marein M Favejee, Stephan C A Wens, et al.
Orphanet Journal of Rare Diseases|July 19, 2015
Quality of life in patients with locked-in syndrome: Evolution over a 6-year periodMarie-Christine Rousseau, Karine Baumstarck, Marine Alessandrini, et al.
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