Lv1
60 积分 2021-12-20 加入
Novel Molecular Genetic Etiology of Asymmetric Hearing Loss: Autosomal-Dominant LMX1A Variants
14小时前
已完结
Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss
15小时前
已完结
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
16小时前
已完结
Loss‐of‐function variants within LMOD1 actin‐binding site 2 cause pediatric intestinal pseudo‐obstruction by impairing protein stability and actin nucleation
2天前
已完结
Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID
2天前
已完结
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