Lv11
70 积分 2026-07-01 加入
Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols
55分钟前
已完结
Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants
13天前
已完结
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
1个月前
已完结
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
1个月前
已完结
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