Lv533
880 积分 2025-07-04 加入
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
6天前
已完结
Ataxia Telangiectasia
6天前
已完结
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles
1个月前
已关闭
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect
1个月前
已完结
The Natural History of Cognitive Dysfunction in Late-Onset GM2 Gangliosidosis
1个月前
已关闭
Trio exome sequencing in individuals with CAKUT identifies de novo variants in potential novel candidate genes in 19.62%
1个月前
已完结
Congenital adrenal hyperplasia
1个月前
已完结
Identification of Hepatic-like EPO as a Cause of Polycythemia
2个月前
已完结
Reversal of SLE and hemophagocytic lymphohistiocytosis caused by lysinuric protein intolerance through allogeneic hematopoietic stem cell transplantation
2个月前
已关闭
Reversal of SLE and hemophagocytic lymphohistiocytosis caused by lysinuric protein intolerance through allogeneic hematopoietic stem cell transplantation
2个月前
已完结
Blends of polyethyleneterephthalate with EPDM through reactive mixing
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