Showing results (101-110 of 4,707) with videos related to

Sort By:
Pageof 471
Orphanet Journal of Rare Diseases|October 13, 2021
Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspectiveAlaa Hamed, Kristina An Haack, Chad Gwaltney, et al.
Orphanet Journal of Rare Diseases|September 29, 2021
Evaluation of the parents' anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological supportAyse B Kolemen, Enes Akyuz, Ali Toprak, et al.
Orphanet Journal of Rare Diseases|September 29, 2021
Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in ChinaLiyan Wu, Wei Zhang, Yanmeng Li, et al.
Orphanet Journal of Rare Diseases|October 3, 2021
Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patientsAnna Ambrosini, Danila Baldessari, Silvia Pozzi, et al.
Orphanet Journal of Rare Diseases|October 4, 2021
Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progressionDavid Adams, Vincent Algalarrondo, Michael Polydefkis, et al.
Orphanet Journal of Rare Diseases|October 10, 2021
Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemiasBruno Fattizzo, Juri Alessandro Giannotta, Nicola Cecchi, et al.
Orphanet Journal of Rare Diseases|January 30, 2022
Phelan-McDermid syndrome: a classification system after 30 years of experienceKaty Phelan, Luigi Boccuto, Craig M Powell, et al.
Orphanet Journal of Rare Diseases|October 25, 2021
Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND)Petrus J de Vries, Loren Leclezio, Sugnet Gardner-Lubbe, et al.
Orphanet Journal of Rare Diseases|October 21, 2021
Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patientsBéatrice Thouvenin, Véronique Soupre, Marie-Anne Caillaud, et al.
Orphanet Journal of Rare Diseases|October 21, 2021
A multicenter study on quality of life of the "greater patient" in congenital ichthyosesDamiano Abeni, Roberta Rotunno, Andrea Diociaiuti, et al.
Pageof 471