Human Mutation

Results: 293



#Item
131Replication timing / Copy-number variation / Mutation / DNA repair / DNA / Point mutation / Gene / Origin of replication / Human genome / Biology / Genetics / Homologous recombination

Please cite this article in press as: Koren et al., Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation, The American Journal of Human Genetics (2012), http://dx.doi.org

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Source URL: genepath.med.harvard.edu

Language: English - Date: 2012-11-26 09:07:39
132Molecular biology / Genetic mapping / Mutation / Copy-number variation / Full genome sequencing / Genome / Human genome / Point mutation / Gene duplication / Biology / Genetics / Genomics

PERSPECTIVES GENETICS Our Fallen Genomes A human brain can cope with many genomic

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Source URL: genepath.med.harvard.edu

Language: English - Date: 2013-11-12 14:09:07
133Genetics / Selection / Evolution / Natural selection / Mutation / Charles Darwin / Human evolution / Species / Fossil / Biology / Evolutionary biology / Science

Evo_CM_Text_PROD[removed]:38 PM

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Source URL: ncse.com

Language: English - Date: 2010-04-26 15:50:45
134Copy-number variation / Structural variation / Human genome / Ataxia telangiectasia / Mutation / Array-comparative genomic hybridization / Comparative genomic hybridization / Compound heterozygosity / BRCA1 / Biology / Genetics / Philosophy of biology

©American College of Medical Genetics and Genomics ORIGINAL RESEARCH ARTICLE Incidental copy-number variants identified by routine genome testing in a clinical population

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Source URL: www.nature.com

Language: English - Date: 2013-01-04 11:12:05
135Mobile genetic elements / Genomics / Genetic mapping / Genome / DNA / Human genome / Retrotransposon / Mutation / C-value enigma / Biology / Genetics / Molecular biology

Working with Molecular Genetics Chapter 4: Genomes and Chromosomes CHAPTER 4 GENOMES AND CHROMOSOMES

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Source URL: www.personal.psu.edu

Language: English - Date: 2005-01-11 22:47:47
136Genomics / DNA / Emerging technologies / Human genome / Single-nucleotide polymorphism / Full genome sequencing / Mutation / Compound heterozygosity / Personalized medicine / Biology / Genetics / Molecular biology

ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics An informatics approach to analyzing the incidentalome Jonathan S. Berg, MD, PhD1–3, Michael Adams, MS1, Nassib Nassar, PhD4, Chris Bizon,

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Source URL: www.nature.com

Language: English - Date: 2013-01-04 11:10:48
137Microsatellite / Genetic marker / Tandem repeat / Satellite DNA / Daphnia pulex / Single-nucleotide polymorphism / Mutation / Indel / Human genome / Biology / Genetics / Philosophy of biology

Sung et al. BMC Genomics 2010, 11:691 http://www.biomedcentral.com[removed] Daphnia Genomics Consortium RESEARCH ARTICLE

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Source URL: www.biomedcentral.com

Language: English
138Medicine / Mitochondrial trifunctional protein deficiency / Mitochondrial trifunctional protein / Thiolase / Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency / Hydroxyacyl-Coenzyme A dehydrogenase / Cytochrome P450 reductase / Fatty-acid metabolism disorder / Mutation / Biology / Health / HADHB

HUMAN MUTATION 21:598^[removed]RESEARCH ARTICLE Molecular and Phenotypic Heterogeneity in Mitochondrial Trifunctional Protein Deficiency

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Source URL: www.fodsupport.org

Language: English - Date: 2012-05-31 13:41:14
139Genetics / Wellcome Trust / Gene expression / Genomics / UCSC Genome Browser / Human genome / Mutation / Online Mendelian Inheritance in Man / Genome browser / Biology / Biological databases / Bioinformatics

PhenCode: connecting ENCODE data with mutations and phenotype

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Source URL: www.bx.psu.edu

Language: English - Date: 2007-06-14 11:19:43
140Marinesco–Sjögren syndrome / American Society of Human Genetics / Human genome / Medical genetics / Mutation / Chromosome 1 / Human genetics / Biology / Genetics / Medicine

NEWS Summer 2003 Colleen Yinger, Editor Website: http://www.marinesco-sjogren.org Email: [removed]

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Source URL: www.marinesco-sjogren.org

Language: English - Date: 2005-02-13 03:21:09
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