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58 积分 2022-08-15 加入
拒绝内卷
Recurrent CACNA1HE282K is a gain-of-function mutation associated with primary hyperaldosteronism
29天前
已完结
Familial Hyperaldosteronism Type IV in a Mother-Daughter Pair
30天前
已完结
Cerebral small vessel disease associated with COL4A1 and COL4A2 duplication: clinical and MRI features resembling CADASIL
1个月前
已完结
COL4A1基因变异致脑小血管病伴眼部异常1例患儿的遗传学分析
1个月前
已完结
The 22q11.2 deletion syndrome: Genetic mechanisms, clinical manifestations, and therapeutic strategies
1个月前
已完结
Thiamine-Responsive Megaloblastic Anemia Syndrome: A Rare Syndromic Cause of Diabetes in Childhood
2个月前
已完结
精氨酸血症致急性肝功能衰竭6例研究
2个月前
已完结
尿素循环障碍的肝移植治疗
2个月前
已完结
Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations
2个月前
已完结
Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study
2个月前
已完结
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