Lv3
352 积分 2021-12-03 加入
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
13天前
已完结
Clinical exome sequencing findings in 1589 patients
17天前
已关闭
Clinical exome sequencing findings in 1589 patients
17天前
已完结
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
21天前
已完结
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
2个月前
已关闭
线粒体信使RNA基因变异分类标准解读
2个月前
已完结
Genetic diagnosis of acute aortic dissection in South China Han population using next-generation sequencing
2个月前
已完结
Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation
4个月前
已关闭
A Family of Multiple Endocrine Neoplasia Type 2A (MEN 2A) with Cys630Tyr RET Germline Mutation: Report of a Case
4个月前
已完结
Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes
4个月前
已完结
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