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  1. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges

    Inherited peripheral neuropathies (IPN) are one of the most frequent inherited causes of neurological disability characterized by considerable phenotypic and genetic heterogeneity. Based on clinical and electrophysiological properties, they can be

    http://iris.ucl.ac.uk/iris/publication/939262/7

  2. Whole-exome sequencing in patients with inherited neuropathies: Outcome and challenges

    Inherited peripheral neuropathies (IPN) are one of the most frequent inherited causes of neurological disability characterized by considerable phenotypic and genetic heterogeneity. Based on clinical and electrophysiological properties, they can be

    http://iris.ucl.ac.uk/iris/publication/955664/7

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