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Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsSpontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in MiceGermline mutation rates and the long-term phenotypic effects of mutation accumulation in wild-type laboratory mice and mutator miceNew insights into the generation and role of de novo mutations in health and diseaseDNA methylation, its mediators and genome integrityCole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HBInitiation of meiotic homologous recombination: flexibility, impact of histone modifications, and chromatin remodelingPatterns of somatically acquired amplifications and deletions in apparently normal tissues of ovarian cancer patientsGenetic mosaics and the germ line lineageHuman Germline Mutation and the Erratic Evolutionary ClockLeveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion RatesCalibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid GenomesGenetics and Genomics of Congenital Heart Disease.Causes and evolutionary consequences of primordial germ-cell specification mode in metazoans.Accurate typing of short tandem repeats from genome-wide sequencing data and its applications.Precise estimates of mutation rate and spectrum in yeast.Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.Aging genomes: a necessary evil in the logic of life.The impact of whole-genome sequencing on the reconstruction of human population history.Characteristics of de novo structural changes in the human genome.FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.The effect of paternal age on offspring intelligence and personality when controlling for paternal trait levelThe genome-wide effects of ionizing radiation on mutation induction in the mammalian germlineThe molecular clock of neutral evolution can be accelerated or slowed by asymmetric spatial structure.The Future of Prenatal Diagnosis and ScreeningTime-dependent estimates of molecular evolutionary rates: evidence and causes.The waiting time problem in a model hominin population.Copy number variation contributes to cryptic genetic variation in outbreak lineages of Cryptococcus gattii from the North American Pacific Northwest.Single genome retrieval of context-dependent variability in mutation rates for human germlineTiming, rates and spectra of human germline mutation.The genetics and neurobiology of ESSENCE: The third Birgit Olsson lectureA comprehensive survey of the mutagenic impact of common cancer cytotoxicsClustered mutations in hominid genome evolution are consistent with APOBEC3G enzymatic activity.Evolution of the Insertion-Deletion Mutation Rate Across the Tree of Life.Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.De novo genic mutations among a Chinese autism spectrum disorder cohort.Toward better understanding of artifacts in variant calling from high-coverage samples.Genomic instability: Crossing pathways at the origin of structural and numerical chromosome changes.
P2860
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P2860
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Properties and rates of germline mutations in humans
@ast
Properties and rates of germline mutations in humans
@en
Properties and rates of germline mutations in humans
@nl
type
label
Properties and rates of germline mutations in humans
@ast
Properties and rates of germline mutations in humans
@en
Properties and rates of germline mutations in humans
@nl
prefLabel
Properties and rates of germline mutations in humans
@ast
Properties and rates of germline mutations in humans
@en
Properties and rates of germline mutations in humans
@nl
P2860
P3181
P1433
P1476
Properties and rates of germline mutations in humans
@en
P2093
Catarina D Campbell
P2860
P304
P3181
P356
10.1016/J.TIG.2013.04.005
P407
P577
2013-10-01T00:00:00Z