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Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing

Academic Article
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  • Research
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Overview

authors

  • Helsmoortel, C.
  • Vandeweyer, G.
  • Ordoukhanian, Phillip
  • Van Nieuwerburgh, F.
  • Van der Aa, N.
  • Kooy, R. F.

publication date

  • August 2015

journal

  • Clinical Genetics  Journal

subject areas

  • Base Sequence
  • DNA Copy Number Variations
  • Exome
  • Family
  • Female
  • Genetic Testing
  • Genome-Wide Association Study
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Intellectual Disability
  • Male
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
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Research

keywords

  • exome sequencing
  • genetic testing
  • intellectual disability
  • mocaicism
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Identity

International Standard Serial Number (ISSN)

  • 0009-9163

Digital Object Identifier (DOI)

  • 10.1111/cge.12470

PubMed ID

  • 25081361
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Additional Document Info

start page

  • 140

end page

  • 148

volume

  • 88

issue

  • 2

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