Lv31
380 积分 2024-08-20 加入
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
8小时前
已完结
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
7天前
已完结
The latent factor structure of the WAIS‐R: A factor analysis of individual item responses
8天前
已完结
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8
10天前
已完结
Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices
12天前
已完结
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene
13天前
已完结
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions
13天前
已完结
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene
13天前
已完结
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita
13天前
已关闭
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita
15天前
已完结
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