Lv583
1350 积分 2025-07-04 加入
RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures
1个月前
已完结
The diagnostic challenge of mild citrulline elevation at newborn screening
1个月前
已完结
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
1个月前
已完结
Ataxia Telangiectasia
1个月前
已完结
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles
2个月前
已关闭
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect
3个月前
已完结
The Natural History of Cognitive Dysfunction in Late-Onset GM2 Gangliosidosis
3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%
3个月前
已完结
Congenital adrenal hyperplasia
3个月前
已完结
Identification of Hepatic-like EPO as a Cause of Polycythemia
3个月前
已完结
Blends of polyethyleneterephthalate with EPDM through reactive mixing
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