Lv12
90 积分 2023-12-18 加入
Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia
5小时前
待确认
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia
16小时前
已完结
Beyond Hotspots: Functional Characterization of the Novel p.Asp2730Tyr Mutation in RYR1 Associated With Malignant Hyperthermia
20小时前
已完结
Novel PKP2 compound heterozygous mutations causing neonatal early-onset arrhythmogenic cardiomyopathy: insights into the synergistic pathogenicity of biallelic inactivation
26天前
已完结
Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin‐B receptor (LBR)‐related regressive spondylometaphyseal dysplasia
7个月前
已关闭
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