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68 积分 2024-01-31 加入
Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project
3天前
已完结
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression
5天前
已关闭
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases
15天前
已完结
Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella
29天前
已完结
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy
29天前
已完结
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach
1个月前
已关闭
Clinical，pathological and gene mutation characteristics of 18 cases of riboflavin-responsive lipid storage myopathy caused by ETFDH gene mutation
1个月前
已完结
Chilren with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronopthisis
1个月前
已关闭
Cell-autonomous effects of APOE4 in restricting microglial response in brain homeostasis and Alzheimer’s disease
1个月前
已完结
Mutation analysis of GCDH gene in four patients with glutaric academia type I
2个月前
已完结
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