Showing results (991-1000 of 4,761) with videos related to

Sort By:
Pageof 477
Orphanet Journal of Rare Diseases|October 7, 2025
Unraveling the mystery of alien hand syndrome: when your hand has a mind of its ownKhaled Moghib, Trisha Shivashankar, Thoria I Essa Ghanm, et al.
Orphanet Journal of Rare Diseases|October 2, 2025
Somewhere to go: a position paper on addressing gaps in transition care for adults with childhood-onset rare diseasesLaura L Tosi, Tracy S Hart, Gabriela Beug, et al.
Orphanet Journal of Rare Diseases|August 19, 2025
A single-centre retrospective study on the clinical characteristics of patients with hereditary angioedema and the therapeutic effect of lanadelumabYanhua Xu, Yinshi Guo
Orphanet Journal of Rare Diseases|August 13, 2025
Epidemiology, disease burden and costs of Duchenne muscular dystrophy in Germany: an observational, retrospective health claims data analysisJoanna Diesing, Janbernd Kirschner, Astrid Pechmann, et al.
Orphanet Journal of Rare Diseases|August 10, 2025
RNA-binding proteins regulate immune-related alternative splicing in inherited salt-losing tubulopathiesFuhui Ma, Yanrong Ma, Mayinu Yusufu, et al.
Orphanet Journal of Rare Diseases|August 13, 2025
Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in ChinaZiyan Cen, Pingping Ge, Yuhe Chen, et al.
Orphanet Journal of Rare Diseases|August 7, 2025
Juvenile Paget disease with unique compound heterozygous sequence variants in the TNFRSF11B geneJana Horackova, Renata Taslerova, Milan Bayer, et al.
Orphanet Journal of Rare Diseases|August 7, 2025
The Wechsler intelligence scale for children, fourth and fifth editions perform comparably in children with Batten diseaseHeather R Adams, Erika F Augustine, Kristen Bonifacio, et al.
Orphanet Journal of Rare Diseases|August 18, 2025
Experiences of symptom burden among young children born with esophageal atresia-tracheoesophageal fistula: a US focus group studyMichaela Dellenmark-Blom, John Bennett, Rosella Micalizzi, et al.
Orphanet Journal of Rare Diseases|August 12, 2025
Patient experience in retinitis pigmentosa and Choroideremia- a concept elicitation study in 17 patients based on qualitative interviewsElke Rometsch, Per-Olof Thuresson, Noémie Hurst, et al.
Pageof 477