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  1. 1
    The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies

    The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies by Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Lucia Abela, Michael Papik, Markus Zweier, Beatrice Oneda, Pascal Joset, Anita Rauch

    Published 2023-05-01
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    Article
  2. 2
    Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

    Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes by Anaïs Begemann, Mario A. Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Ruxandra Bachmann-Gagescu, Annette Hackenberg, Lucia Abela, Barbara Plecko, Judith Kroell-Seger, Alessandra Baumer, Kazuhiro Yamakawa, Yushi Inoue, Reza Asadollahi, Heinrich Sticht, Hanns Ulrich Zeilhofer, Anita Rauch

    Published 2019-02-01
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