Lv2
130 积分 2024-01-06 加入
短链酰基辅酶A脱氢酶缺乏症新生儿筛查、临床特征及基因突变分析
15天前
已完结
七个鸟氨酸氨甲酰基转移酶缺陷症家系基因变异分析及产前诊断
1个月前
已完结
Prenatal diagnosis of ornithine transcarbamylase deficiency
1个月前
已完结
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype
1个月前
已完结
Pulmonary involvement in Niemann-Pick C type 1
2个月前
已完结
Pulmonary involvement in Niemann-Pick C type 1
2个月前
已关闭
白化病临床症状及分子机制研究进展
2个月前
已完结
von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene
3个月前
已完结
Collagen Binding Provides a Sensitive Screen for Variant von Willebrand Disease
3个月前
已完结
[Expert consensus on the diagnosis and therapy of inherited hyperbilirubinemia (version 2025)]
3个月前
已完结
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