Lv11
10 积分 2024-10-31 加入
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
5小时前
待确认
Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling
8天前
已完结
Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort
8天前
已完结
Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?
8天前
已完结
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
1个月前
已完结
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