Lv1
28 积分 2023-08-09 加入
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency
6小时前
待确认
RNF213 loss-of-function promotes pathological angiogenesis in moyamoya disease via the Hippo pathway
4天前
已关闭
Hemophagocytic lymphohistiocytosis in Egyptian children: diagnosis, treatment challenges, and outcome
4天前
已完结
RNF213 loss-of-function promotes pathological angiogenesis in moyamoya disease via the Hippo pathway
5天前
已完结
A novel frameshift variant in TNFRSF13B in a Chinese patient with late-onset combined immunodeficiency
6天前
已完结
Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
17天前
已完结
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants
20天前
已关闭
De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum
20天前
已完结
[Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation]
20天前
已关闭
Research Advances in the Molecular Functions and Relevant Diseases of TAOKs, Novel STE20 Kinase Family Members
24天前
已完结
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