Lv21
200 积分 2024-02-28 加入
First case report of effective and safe application of cannabidiol to treat concurrent ALG3-CDG and Lennox-Gastaut Syndrome
39分钟前
待确认
HDR syndrome: Large cohort and systematic review
1个月前
已完结
Molecular findings in children with inherited intrahepatic cholestasis
2个月前
已完结
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review
2个月前
已完结
Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai
3个月前
已完结
Ocular Manifestations of ROSAH Syndrome Caused by Different Mutations of the ALPK1 Gene
3个月前
已完结
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing
5个月前
已完结
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