Lv2
158 积分 2023-11-27 加入
A tandem duplication of exon 42 of theDMDgene is a likely benign variant
7天前
已完结
Muscular Dystrophy: Mutations in the Dystrophin Gene
9天前
已完结
Advancements in the application of RNA sequencing for genetic disorder diagnosis
12天前
已完结
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy
25天前
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
Thalassemia genetic screening of pregnant women with anemia in Northern China through comprehensive analysis of thalassemia alleles (CATSA)
2个月前
已完结
References
2个月前
已完结
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data
2个月前
已完结
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