Showing results (1021-1030 of 4,761) with videos related to

Sort By:
Pageof 477
Orphanet Journal of Rare Diseases|March 14, 2025
46, XY disorders of sex development combined with aceruloplasminaemia: a case report and review of the literatureYanju Li, Mei Zhao, Yang Liu, et al.
Orphanet Journal of Rare Diseases|April 24, 2025
Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenuesMor Angel, Yuval Kleinberg, Tanmoy Newaz, et al.
Orphanet Journal of Rare Diseases|April 21, 2025
Langerhans cell histiocytosis of the jaw: clinical analysis of 68 casesJiale Li, Hao Wu, Zilin Wang, et al.
Orphanet Journal of Rare Diseases|May 5, 2025
Hereditary leptomeningeal transthyretin amyloidosis with heterozygous TTR mutation: a case report and literature reviewHong-Tao Chen, You-Jun Tian, Jue Zhang, et al.
Orphanet Journal of Rare Diseases|April 8, 2025
Undifferentiated autoinflammatory disease in adults: a prospective study in 61 patientsJunke Miao, Di Wu, Min Shen
Orphanet Journal of Rare Diseases|April 14, 2025
A population-based cohort study of mitochondrial disease and mental health conditions in Ontario, CanadaLaura C Rosella, Mackenzie Hurst, Emmalin Buajitti, et al.
Orphanet Journal of Rare Diseases|April 11, 2025
Operative treatment of severe scoliosis and pelvic obliquity in patients with spinal muscular atrophy: assessment of outcomes and complicationsHeng Sun, Yizhen Huang, Yulei Dong, et al.
Orphanet Journal of Rare Diseases|April 1, 2025
Primary hyperparathyroidism during pregnancy: ultrasound as an accurate preoperative localization imaging modalityMengyuan Zhou, Yudi He, Yanwen Luo, et al.
Orphanet Journal of Rare Diseases|April 11, 2025
Preliminary investigation on the economic cost of mitochondrial disease in Chinese childrenChaolong Xu, Dan Zhao, Xin Duan, et al.
Orphanet Journal of Rare Diseases|June 12, 2023
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genesYongchao Guo, Jianhui Jiang, Zhongyao Xu
Pageof 477