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36 积分 2024-06-24 加入
Genomic rearrangements in inherited disease and cancer
13小时前
已完结
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase
1天前
已完结
Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule
1天前
已完结
RNA-based gene duplication: mechanistic and evolutionary insights
11天前
已完结
Decoding Complexity: The Role of Long-Read Sequencing in Unraveling Genetic Disease Etiologies
1个月前
已完结
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
2个月前
已完结
HiFi long-read genomes for difficult-to-detect clinically relevant variants
2个月前
已完结
[Expert consensus on the genetic diagnosis for Dystrophinopathies]
2个月前
已完结
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
2个月前
已完结
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
2个月前
已完结
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