نتائج البحث - Detlef Böhm

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  1. 1
    Targeted next generation sequencing as a diagnostic tool in epileptic disorders

    Targeted next generation sequencing as a diagnostic tool in epileptic disorders حسب Johannes R. Lemke, Erik Riesch, Tim Scheurenbrand, Max Schubach, Christian Wilhelm, Isabelle Steiner, Jörg Hansen, Carolina Courage, Sabina Gallati, Sarah Bürki, Susi Strozzi, Barbara Goeggel Simonetti, Sebastian Grunt, Maja Steinlin, Michael Alber, Markus Wolff, Thomas Klopstock, Eva Christina Prott, Rüdiger Lorenz, Christiane Spaich, Sabine Rona, Maya Lakshminarasimhan, Judith F. Kroll, Thomas Dorn, Günter Krämer, Matthis Synofzik, Felicitas Becker, Yvonne G. Weber, Holger Lerche, Detlef Böhm, Saskia Biskup

    منشور في 2012
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    Artigo
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    محفوظ في:
  2. 2
    Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

    Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly حسب Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart Douglas, Danielle C. Lynch, Chandree L. Beaulieu, Maria Leine Guion‐Almeida, Roseli Maria Zechi‐Ceide, Blanca Gener, Gabriele Gillessen‐Kaesbach, Caroline Nava, Geneviève Baujat, Denise Horn, Usha Kini, Almuth Caliebe, Yasemin Alanay, Gülen Eda Ütine, Dorit Lev, Jürgen Kohlhase, Arthur W. Grix, Dietmar Lohmann, Ute Hehr, Detlef Böhm, Jacek Majewski, Dennis E. Bulman, Dagmar Wieczorek, Kym M. Boycott

    منشور في 2012
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    Artigo
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    محفوظ في:

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