Lv1
100 积分 2023-10-16 加入
Chasing the ubiquitous RET proto-oncogene in South African MEN2 families--implications for the surgeon
16天前
已完结
Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines
19天前
已完结
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency]
21天前
已完结
Genetic Basis of Childhood Cardiomyopathy
1个月前
已完结
[Chinese expert consensus on genetic testing and genetic counseling for inherited cardiovascular diseases]
7个月前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
8个月前
已完结
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype–phenotype relationships
8个月前
已完结
A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment
8个月前
已完结
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
9个月前
已完结
[Correlation between the mutation spectrum of the UGT1A1 gene and clinical phenotype in patients with inherited hyperunconjugated bilirubinemia]
9个月前
已完结
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