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180 积分 2024-02-28 加入
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review
8天前
已完结
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai
21天前
已完结
Ocular Manifestations of ROSAH Syndrome Caused by Different Mutations of the ALPK1 Gene
1个月前
已完结
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing
3个月前
已完结
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