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168 积分 2021-03-26 加入
Clinical and genetic spectrum of CASK-related disorders in Chinese patients
1天前
待确认
Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives
14天前
已完结
Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study
18天前
已完结
Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
24天前
已完结
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed
28天前
已完结
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)
1个月前
已完结
Structure of the mouse cytoplasmic lattice
1个月前
已完结
mRNA 3′UTRs chaperone intrinsically disordered regions to control protein activity
2个月前
已完结
Mitochondrial disease in adults: recent advances and future promise
2个月前
已完结
Microproteins at the Frontiers of Biology and Medicine
3个月前
已关闭