Showing results (381-390 of 4,750) with videos related to
Sort By:
Pageof 475
Orphanet Journal of Rare Diseases|September 5, 2024
Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trialsElla Wilson, Richard Leventer, Chloe Cunningham, et al.Orphanet Journal of Rare Diseases|September 7, 2024
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in KoreaMan Jin Kim, Jee-Soo Lee, Seung Won Chae, et al.Orphanet Journal of Rare Diseases|August 31, 2024
Experiences of quality of life and access to health services among rare disease caregivers: a scoping reviewTina Černe, Lijana Zaletel Kragelj, Eva Turk, et al.Orphanet Journal of Rare Diseases|July 29, 2024
Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in ChinaRuofei Lian, Gongao Wu, Falin Xu, et al.Orphanet Journal of Rare Diseases|August 14, 2024
Time to diagnosis for a rare disease: managing medical uncertainty. A qualitative studyChristine Phillips, Anne Parkinson, Tergel Namsrai, et al.Orphanet Journal of Rare Diseases|August 13, 2024
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver surveyWalter E Kaufmann, Alan K Percy, Jeffrey L Neul, et al.Orphanet Journal of Rare Diseases|August 15, 2024
Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular musclesJin Wu, Lijuan Huang, Yunyu Zhou, et al.Orphanet Journal of Rare Diseases|June 22, 2024
An international survey assessing the effects of the duration of attack-free period on health-related quality of life for patients with hereditary angioedemaRobbin Itzler, William R Lumry, John Sears, et al.Orphanet Journal of Rare Diseases|August 11, 2006
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)Zbigniew K Wszolek, Yoshio Tsuboi, Bernardino Ghetti, et al.Orphanet Journal of Rare Diseases|August 29, 2006
RetinoblastomaIsabelle Aerts, Livia Lumbroso-Le Rouic, Marion Gauthier-Villars, et al.Pageof 475