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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
Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets
Avian W and mammalian Y chromosomes convergently retained dosage-sensitive regulators
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk
Landscape of monoallelic DNA accessibility in mouse embryonic stem cells and neural progenitor cells
Limited heterogeneity of known driver gene mutations among the metastases of individual patients with pancreatic cancer
Genomic analysis of globally diverse Mycobacterium tuberculosis strains provides insights into the emergence and spread of multidrug resistance
Epigenomic reprogramming during pancreatic cancer progression links anabolic glucose metabolism to distant metastasis
Divergent effects of intrinsically active MEK variants on developmental Ras signaling
Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis
A study of allelic diversity underlying flowering-time adaptation in maize landraces
Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility
Whole-genome analysis of introgressive hybridization and characterization of the bovine legacy of Mongolian yaks
A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases
Acquired CYP19A1 amplification is an early specific mechanism of aromatase inhibitor resistance in ERα metastatic breast cancer
Pediatric non–Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Systematic analysis of telomere length and somatic alterations in 31 cancer types
A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers
Precision oncology for acute myeloid leukemia using a knowledge bank approach
Case–control association mapping by proxy using family history of disease

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