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※上記の広告は60日以上更新のないWIKIに表示されています。更新することで広告が下部へ移動します。

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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
Asymmetric subgenome selection and cis-regulatory divergence during cotton domestication
Genome-wide analyses identify common variants associated with macular telangiectasia type 2
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
Promoter shape varies across populations and affects promoter evolution and expression noise
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
Spatiotemporal genomic architecture informs precision oncology in glioblastoma
Biallelic mutations in human DCC cause developmental split-brain syndrome
Diversity in non-repetitive human sequences not found in the reference genome
Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types
Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data
Single-molecule sequencing and chromatin conformation capture enable de novo reference assembly of the domestic goat genome
Identification of methylation haplotype blocks aids in deconvolution of heterogeneous tissue samples and tumor tissue-of-origin mapping from plasma DNA
Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci
Reconstructing the genome of the most recent common ancestor of flowering plants
Accounting for genetic interactions improves modeling of individual quantitative trait phenotypes in yeast
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

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