about
Single cell genomics: advances and future perspectivesCharacterization of large structural genetic mosaicism in human autosomeSomatic mutations in disorders with disrupted brain connectivityPractical aspects of NGS-based pathways analysis for personalized cancer science and medicineClinical Genetic Aspects of ASD Spectrum DisordersSomatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangementsGenes and brain malformations associated with abnormal neuron positioningProceedings: consideration of genetics in the design of induced pluripotent stem cell-based models of complex diseaseAdvances and applications of single-cell sequencing technologiesFemale chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosomeNew insights into the generation and role of de novo mutations in health and diseaseProteus syndrome review: molecular, clinical, and pathologic featuresExtensive Hidden Genomic Mosaicism Revealed in Normal TissuePatterns of somatically acquired amplifications and deletions in apparently normal tissues of ovarian cancer patientsParental somatic mosaicism is underrecognized and influences recurrence risk of genomic disordersMosaic structural variation in children with developmental disordersPostzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individualsGenetic mosaics and the germ line lineageThe evolution of comparative genomicsPI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasiaExpression of thymidylate synthase predicts clinical outcomes of pemetrexed-containing chemotherapy for non-small-cell lung cancer: a systemic review and meta-analysis.Genomic Landscape Established by Allelic Imbalance in the Cancerization Field of a Normal Appearing Airway.A novel indel in exon 9 of APC upregulates a 'skip exon 9' isoform and causes very severe familial adenomatous polyposis.MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsyChromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.Influence of donor age on induced pluripotent stem cells.Passage number is a major contributor to genomic structural variations in mouse iPSCs.Whole-genome sequencing identifies genetic variances in culture-expanded human mesenchymal stem cellsParent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.Potential clinical utility of ultrasensitive circulating tumor DNA detection with CAPP-Seq.Genomic variants and variations in malformations of cortical development.PCDH19-related epilepsy in two mosaic male patients.High-resolution copy number variation analysis of schizophrenia in Japan.A patient with mosaic neurofibromatosis type 2 presenting with early onset meningiomaSingle nucleotide variations: biological impact and theoretical interpretation.Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brainSomatic mutations in cerebral cortical malformations.A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.
P2860
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P2860
description
2013 nî lūn-bûn
@nan
2013 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մայիսին 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
A genomic view of mosaicism and human disease.
@ast
A genomic view of mosaicism and human disease.
@en
A genomic view of mosaicism and human disease.
@nl
type
label
A genomic view of mosaicism and human disease.
@ast
A genomic view of mosaicism and human disease.
@en
A genomic view of mosaicism and human disease.
@nl
prefLabel
A genomic view of mosaicism and human disease.
@ast
A genomic view of mosaicism and human disease.
@en
A genomic view of mosaicism and human disease.
@nl
P356
P1476
A genomic view of mosaicism and human disease.
@en
P2093
Nancy B Spinner
P2888
P304
P356
10.1038/NRG3424
P577
2013-05-01T00:00:00Z
P6179
1040973363