Lv2
200 积分 2021-12-02 加入
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
4天前
已完结
Germline pathogenic variants of cancer predisposition genes in a multicentre Italian cohort of pancreatic cancer patients
4天前
已完结
Pediatric glioblastoma in the setting of constitutional mismatch‐repair deficiency treated with upfront lomustine and nivolumab
6天前
已完结
Novel PLEC variants associated with infantile cholestasis
12天前
已完结
Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants
15天前
已完结
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7
22天前
已完结
Spectrum of CraniosynostosisPhenotypes Associated with NovelMutations at the Fibroblast GrowthFactor Receptor 2 Locus
25天前
已完结
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
25天前
已完结
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
25天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
25天前
已完结
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