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Orphanet Journal of Rare Diseases|October 15, 2008
Transposition of the great arteriesPaula Martins, Eduardo Castela
Orphanet Journal of Rare Diseases|September 18, 2008
The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UKDavid Moore, Martin J Connock, Ed Wraith, et al.
Orphanet Journal of Rare Diseases|July 25, 2008
Cluster headacheElizabeth Leroux, Anne Ducros
Orphanet Journal of Rare Diseases|November 21, 2008
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)Agatino Battaglia
Orphanet Journal of Rare Diseases|September 13, 2007
Hypereosinophilic syndromesFlorence E Roufosse, Michel Goldman, Elie Cogan
Orphanet Journal of Rare Diseases|August 12, 2020
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutationsHyun Jin Park, Chang Ho Shin, Won Joon Yoo, et al.
Orphanet Journal of Rare Diseases|August 26, 2020
Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update SurveyLisa Belter, Rosángel Cruz, Jill Jarecki
Orphanet Journal of Rare Diseases|April 11, 2023
Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series dataJef Van den Eynde, Bhargava Chinni, Hilary Vernon, et al.
Orphanet Journal of Rare Diseases|April 14, 2023
Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional studyMeike Mund, Natalie Uhlenbusch, Franziska Rillig, et al.
Orphanet Journal of Rare Diseases|April 14, 2023
The clinical characteristics and outcomes of patients with systemic sclerosis with myocardial involvementHuilin He, Jinzhi Lai, Jiaxin Zhou, et al.
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