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38 积分 2024-02-27 加入
Inferring compound heterozygosity from large-scale exome sequencing data
8天前
已完结
Inferring compound heterozygosity from large-scale exome sequencing data
13天前
已完结
Insights into the pathogenesis of hereditary angioedema using genetic sequencing and recombinant protein expression analyses
16天前
已完结
Significance of hereditary gene alterations for the pathogenesis of adult bone marrow failure versus myeloid neoplasia
16天前
已完结
Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy
20天前
已完结
Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants
20天前
已完结
Novel Compound Heterozygous Variants in the FAS Gene Lead to Fetal Onset of Autoimmune Lymphoproliferative Syndrome (ALPS)
20天前
已完结
Effect of L-Carnitine Level on the Risk of Neuromyelitis Optica Spectrum Disorders: A Two-Sample Mendelian Randomization Study
1个月前
已完结
Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder
1个月前
已完结
GWAS data help unravel Dupuytren disease
3个月前
已完结
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