Lv6
2370 积分 2023-06-24 加入
A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency
10天前
已完结
The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross-sectional study
1个月前
已关闭
Mutational and clinical spectrum of myofibrillar myopathy in one center from China
1个月前
已完结
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
1个月前
已完结
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort
1个月前
已完结
Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
1个月前
已完结
Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndrome
1个月前
已完结
The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross‐sectional study
2个月前
已完结
Mutational and clinical spectrum of myofibrillar myopathy in one center from China
2个月前
已完结