Lv73
4090 积分 2025-07-04 加入
RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures
10个月前
已完结
The diagnostic challenge of mild citrulline elevation at newborn screening
10个月前
已完结
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
11个月前
已完结
Ataxia Telangiectasia
11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
1年前
已关闭
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect
1年前
已完结
The Natural History of Cognitive Dysfunction in Late-Onset GM2 Gangliosidosis
1年前
已关闭
Trio exome sequencing in individuals with CAKUT identifies de novo variants in potential novel candidate genes in 19.62%
1年前
已完结
Congenital adrenal hyperplasia
1年前
已完结
Identification of Hepatic-like EPO as a Cause of Polycythemia
1年前
已完结
Blends of polyethyleneterephthalate with EPDM through reactive mixing
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