Lv61
2180 积分 2024-05-06 加入
Systemic complications of Aicardi Goutières syndrome using real-world data
2个月前
已完结
Reverse transcriptase inhibitors in Aicardi‐Goutières syndrome: Design and regulatory challenges in clinical trials for rare disease
2个月前
已完结
Heterozygous variants in USP25 cause genetic generalized epilepsy
3个月前
已完结
45,X/46,XY mosaicism: Clinical manifestations and long term follow‐up
4个月前
已完结
Associations of sleeping patterns and isotemporal substitution of other behavior with the prevalence of CKD in Chinese adults
4个月前
已完结
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature
4个月前
已完结
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita
4个月前
已完结
Autosomal recessive inheritance of a novel missense mutation of ITGB4 for Epidermolysis-Bullosa pyloric-atresia: a case report
5个月前
已完结
Target genes regulated by CLEC16A intronic region associated with common variable immunodeficiency
5个月前
已完结
Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database
5个月前
已完结
子宫肌壁间妊娠诊治中国专家共识（2024年版）
8个月前
已采纳
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