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Orphanet Journal of Rare Diseases|October 5, 2017
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, et al.Orphanet Journal of Rare Diseases|November 23, 2017
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndromeLaura Avagliano, Paolo Grazioli, Milena Mariani, et al.Orphanet Journal of Rare Diseases|September 8, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular DystrophyElizabeth Harris, Ana Topf, Rita Barresi, et al.Orphanet Journal of Rare Diseases|November 1, 2006
Congenital pulmonary lymphangiectasiaCarlo Bellini, Francesco Boccardo, Corradino Campisi, et al.Orphanet Journal of Rare Diseases|November 18, 2006
Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)François LanzaOrphanet Journal of Rare Diseases|February 28, 2007
Health status of adults with short stature: a comparison with the normal population and one well-known chronic disease (rheumatoid arthritis)Heidi Johansen, Inger-Lise Andresen, Eva E Naess, et al.Orphanet Journal of Rare Diseases|August 31, 2006
Congenital cataracts-facial dysmorphism-neuropathyLuba KalaydjievaOrphanet Journal of Rare Diseases|December 13, 2006
Pheochromocytomas and secreting paragangliomasPierre-François Plouin, Anne-Paule Gimenez-RoqueploOrphanet Journal of Rare Diseases|July 15, 2006
Cardiomyopathy, familial dilatedMatthew R G Taylor, Elisa Carniel, Luisa MestroniPageof 479