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128 积分 2023-11-27 加入
[Expert consensus on the genetic counseling for Dystrophinopathies]
9天前
已完结
肌营养不良蛋白病遗传学诊断专家共识
9天前
已完结
[Clinical practice guidelines for Duchenne muscular dystrophy]
10天前
已完结
A tandem duplication of exon 42 of theDMDgene is a likely benign variant
21天前
已完结
Muscular Dystrophy: Mutations in the Dystrophin Gene
23天前
已完结
Advancements in the application of RNA sequencing for genetic disorder diagnosis
26天前
已完结
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy
1个月前
已完结
Screening results and mutation frequency analysis of G6PD deficiency in 1,291,274 newborns in Huizhou, China: a twenty-year experience
1个月前
已完结
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
2个月前
已完结
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
2个月前
已完结
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