Lv15
32 积分 2024-11-11 加入
[Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A]
5小时前
求助中
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
1天前
已关闭
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
1天前
已完结
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients
1天前
已完结
Gene expression changes in Tay–Sachs disease begin early in fetal brain development
2天前
已完结
Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease
2天前
已关闭
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
3天前
已关闭
Cloning of cDNAs for Fanconi's anaemia by functional complementation
4天前
已完结
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay
6天前
已完结
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