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Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. by Christine R Beck, Claudia M B Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M McCahan, Marco Henneke, Pavel Seeman, James Y Garbern, Grace M Hobson, James R Lupski
Published 2015-03-01
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Interferon-driven brain phenotype in a mouse model of RNaseT2 deficient leukoencephalopathy by Matthias Kettwig, Katharina Ternka, Kristin Wendland, Dennis Manfred Krüger, Silvia Zampar, Charlotte Schob, Jonas Franz, Abhishek Aich, Anne Winkler, M. Sadman Sakib, Lalit Kaurani, Robert Epple, Hauke B. Werner, Samy Hakroush, Julia Kitz, Marco Prinz, Eva Bartok, Gunther Hartmann, Simone Schröder, Peter Rehling, Marco Henneke, Susann Boretius, A. Alia, Oliver Wirths, Andre Fischer, Christine Stadelmann, Stefan Nessler, Jutta Gärtner
Published 2021-11-01
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The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood by Jan Henje Döring, Afshin Saffari, Thomas Bast, Knut Brockmann, Laura Ehrhardt, Walid Fazeli, Wibke G. Janzarik, Gerhard Kluger, Hiltrud Muhle, Rikke S. Møller, Konrad Platzer, Joana Larupa Santos, Iben Bache, Astrid Bertsche, Michaela Bonfert, Ingo Borggräfe, Philip J. Broser, Alexandre N. Datta, Trine Bjørg Hammer, Hans Hartmann, Anette Hasse-Wittmer, Marco Henneke, Hermann Kühne, Johannes R. Lemke, Oliver Maier, Eva Matzker, Andreas Merkenschlager, Joachim Opp, Steffi Patzer, Kevin Rostasy, Birgit Stark, Adam Strzelczyk, Celina von Stülpnagel, Yvonne Weber, Markus Wolff, Birgit Zirn, Georg Friedrich Hoffmann, Stefan Kölker, Steffen Syrbe
Published 2020-10-01
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