Lv4
676 积分 2023-10-26 加入
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
2天前
已完结
The mutation spectrum of Parkinson‐disease‐related genes in early‐onset Parkinson's disease in ethnic Chinese
2天前
已完结
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population
3天前
已完结
Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene
3天前
已完结
Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report
4天前
已完结
Gaucher disease among Chinese patients: Review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles
4天前
已关闭
Gaucher disease among Chinese patients: Review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles
4天前
已完结
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
4天前
已完结
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
4天前
已完结
Functional Analysis of SCN5A Genetic Variants Associated with Brugada Syndrome
10天前
已关闭
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