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346 积分 2021-12-03 加入
Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation
2天前
求助中
A Family of Multiple Endocrine Neoplasia Type 2A (MEN 2A) with Cys630Tyr RET Germline Mutation: Report of a Case
2天前
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天前
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天前
已完结
X‐linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L
18天前
已完结
Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)
1个月前
已完结
Mutations in Sarcomeric Genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in Patients With Hypertrophic Cardiomyopathy
1个月前
已完结
Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue
1个月前
已完结
A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex
1个月前
已完结
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome
1个月前
已完结
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