Lv3
356 积分 2021-12-03 加入
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
21天前
已关闭
线粒体信使RNA基因变异分类标准解读
25天前
已完结
Genetic diagnosis of acute aortic dissection in South China Han population using next-generation sequencing
28天前
已完结
Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation
2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
2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
2个月前
已完结
Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database
2个月前
已完结
X‐linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L
3个月前
已完结
Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)
3个月前
已完结
Mutations in Sarcomeric Genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in Patients With Hypertrophic Cardiomyopathy
3个月前
已完结
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