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Orphanet Journal of Rare Diseases|August 20, 2022
Electrocardiographic features of children with Duchenne muscular dystrophyLiting Tang, Shuran Shao, Chuan Wang
Orphanet Journal of Rare Diseases|August 9, 2022
Thymectomy in ocular myasthenia gravis-prognosis and risk factors analysisJinwei Zhang, Zeyang Zhang, Hui Zhang, et al.
Orphanet Journal of Rare Diseases|August 2, 2022
Fatal systemic disorder caused by biallelic variants in FARSASoo Yeon Kim, Saebom Ko, Hyunook Kang, et al.
Orphanet Journal of Rare Diseases|May 27, 2020
High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based studySvein O Fredwall, Unni Steen, Olga de Vries, et al.
Orphanet Journal of Rare Diseases|May 6, 2021
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerationsKirk A J Stephenson, Julia Zhu, Niamh Wynne, et al.
Orphanet Journal of Rare Diseases|May 6, 2021
Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndromeHelena Mosbah, Muriel Coupaye, Flavien Jacques, et al.
Orphanet Journal of Rare Diseases|May 26, 2020
Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patientsC Daccord, V Cottin, G Prévot, et al.
Orphanet Journal of Rare Diseases|May 21, 2020
Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind AllianceGerda Mickute, Kristina Staley, Heather Delaney, et al.
Orphanet Journal of Rare Diseases|June 25, 2020
Efficacy and tolerability of the investigational topical cream SD-101 (6% allantoin) in patients with epidermolysis bullosa: a phase 3, randomized, double-blind, vehicle-controlled trial (ESSENCE study)Amy S Paller, John Browning, Milos Nikolic, et al.
Orphanet Journal of Rare Diseases|June 26, 2020
Three years of growth hormone treatment in young adults with Prader-Willi syndrome: sustained positive effects on body compositionLayla Damen, Stephany H Donze, Renske J Kuppens, et al.
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