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• Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features : clinical observations
  Article (Journal), Online Resource
• Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia
  Article (Journal), Online Resource
• Characterization of large deletions in the DHCR7 gene
  Article (Journal), Online Resource
• Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?
  Article (Journal), Online Resource
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  Article (Journal), Online Resource

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Related Authors

• Hinderhofer, Katrin
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• Moog, Ute
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