Lv11
20 积分 2024-02-08 加入
Prognosis for loss-of-function vs hot-spot variants in RBM20-related cardiomyopathy
22分钟前
待确认
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease
7个月前
已完结
Patterns of molar agenesis associated with p.P20L and p.R77Q variants in PAX9
7个月前
已完结
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature
8个月前
已完结
Analysis of DPYS gene variants in a child with dihydropyrimidase deficiency
1年前
已完结
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