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40 积分 2023-12-29 加入
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants
5个月前
已完结
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene
5个月前
已完结
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia
5个月前
已完结
BSEP andMDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis
5个月前
已完结
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