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Computational Tools for Studying Genome Structural Variation
2小时前
求助中
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14ataxia) in Japanese
8个月前
已完结
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
11个月前
已完结
A new pseudoexon activation due to ultrarare branch point formation in Duchenne muscular dystrophy
1年前
已完结
A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course
1年前
已完结
Expanding Phenotype and Clinical Analysis of Tyrosine Hydroxylase Deficiency
1年前
已完结
A functional intronic variant in the tyrosine hydroxylase (TH) gene confers risk of essential hypertension in the Northern Chinese Han population
1年前
已完结
SINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombasthenia
1年前
已完结
Cost-effective Cas9-mediated targeted sequencing of Spinocerebellar ataxia repeat expansions
1年前
已完结
De novo reconstruction of satellite repeat units from sequence data
1年前
已完结
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