Lv7
4530 积分 2025-07-04 加入
Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood
10小时前
已完结
Novel mutations associated with carnitine palmitoyltransferase II deficiency
11小时前
已完结
RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures
11个月前
已完结
The diagnostic challenge of mild citrulline elevation at newborn screening
1年前
已完结
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
1年前
已完结
Ataxia Telangiectasia
1年前
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
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