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Orphanet Journal of Rare Diseases|May 22, 2024
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCANicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, et al.
Orphanet Journal of Rare Diseases|May 24, 2024
Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis - a case series studySung-Ju Hsueh, Chin-Hsien Lin, Ni-Chung Lee, et al.
Orphanet Journal of Rare Diseases|June 6, 2024
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integrationFengying Sun, Minmin Xiao, Dong Ji, et al.
Orphanet Journal of Rare Diseases|June 2, 2024
Neuroleptic malignant syndrome and serotonin syndrome: a comparative bibliometric analysisWaleed M Sweileh
Orphanet Journal of Rare Diseases|June 6, 2024
Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1Shu-Yuan Li, Jia-Yan Feng, Zhong-Die Li, et al.
Orphanet Journal of Rare Diseases|July 6, 2024
Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in BrazilIsabela Mayá Wayhs Silva, Vera Lúcia Gil-da-Silva-Lopes
Orphanet Journal of Rare Diseases|July 9, 2024
Efficacy and safety of D-penicillamine, trientine, and zinc in pediatric Wilson disease patientsEun Joo Lee, Min Hyung Woo, Jin Soo Moon, et al.
Orphanet Journal of Rare Diseases|June 14, 2024
The experience of caregiving for children with rare musculoskeletal conditions: a qualitative study in arthrogryposis multiplex congenitaR U Elekanachi, A Lajoie, S Tavukcu, et al.
Orphanet Journal of Rare Diseases|June 14, 2024
Gastric SMARCA4-deficient undifferentiated tumor (SMARCA4-UT): a clinicopathological analysis of four rare casesPing Zhou, Yiyun Fu, Weiya Wang, et al.
Orphanet Journal of Rare Diseases|May 15, 2024
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective studyLing Su, Huiying Sheng, Xiuzhen Li, et al.
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