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Title:          Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
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      Title: Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
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        Title: Introduction
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       Item: 
        Title: Material and Methods
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         Item: 
          Title: Research Subjects
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         Item: 
          Title: Exome Sequencing and Sanger Sequencing
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         Item: 
          Title: Plasmid Construct and Protein Purification
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           Item: 
            Title: Cloning of the Mutant hTopIIIα Expression Vector
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            Title: Expression and Purification of TRR
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            Title: dHJ Dissolution
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          Title: Cell Culture
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          Title: Sister Chromatid Exchange Assay
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            Title: SCE Methodology for Analysis of P7 and P8
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          Title: Immunofluorescence and microscopy
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          Title: Immunoblotting
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        Title: Results
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          Title: Identification of Mutations in TOP3A
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         Item: 
          Title: Prenatal-Onset Growth Restriction and Microcephaly in Individuals with TOP3A Mutations
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         Item: 
          Title: Cardiomyopathy Is Present in Some Individuals with TOP3A Mutations
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          Title: TOP3A Mutations Lead to Markedly Reduced Cellular Amounts of Enzyme TopIIIα
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          Title: SCEs Are Markedly Elevated in Individuals with TOP3A Mutations
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         Item: 
          Title: Chromosome Segregation Defects and Genome Instability Occur in Cells with TOP3A Mutations
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         Item: 
          Title: A Homozygous Truncating Variant in RMI1 Is Associated with Microcephalic Dwarfism
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        Title: Discussion
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        Title: Supplemental Data
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  Checksum: be6fd4be
   Type: CRC32
  Checksum: 3e18b85f217729b0487237ab8dee5d43
   Type: MD5
  Checksum: a5865f1a8bf96f9f5bef2e514a25d350f661c7a1
   Type: SHA-1
  Checksum: b92a18a20a0725ae2b158a6ee10dd2d3314c6c03d105b116ff8a3ea3360a5693
   Type: SHA-256