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1 Ergebnisse
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia,..:
Gennarino, Vincenzo A.
;
Palmer, Elizabeth E.
;
McDonell, Laura M.
...
Cell. 172 (2018) 5 - p. 924-936.e11 , 2018
Link:
https://doi.org/10.1016/j.cell.2018.02.006
RT Journal T1
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.cell.2018.02.006&Exemplar=1&LAN=DE A1 Gennarino, Vincenzo A. A1 Palmer, Elizabeth E. A1 McDonell, Laura M. A1 Wang, Li A1 Adamski, Carolyn J. A1 Koire, Amanda A1 See, Lauren A1 Chen, Chun-An A1 Schaaf, Christian P. A1 Rosenfeld, Jill A. A1 Panzer, Jessica A. A1 Moog, Ute A1 Hao, Shuang A1 Bye, Ann A1 Kirk, Edwin P. A1 Stankiewicz, Pawel A1 Breman, Amy M. A1 McBride, Arran A1 Kandula, Tejaswi A1 Dubbs, Holly A. A1 Macintosh, Rebecca A1 Cardamone, Michael A1 Zhu, Ying A1 Ying, Kevin A1 Dias, Kerith-Rae A1 Cho, Megan T. A1 Henderson, Lindsay B. A1 Baskin, Berivan A1 Morris, Paula A1 Tao, Jiang PB Elsevier BV YR 2018 SN 0092-8674 JF Cell VO 172 IS 5 SP 924 OP 936.e11 LK http://dx.doi.org/https://doi.org/10.1016/j.cell.2018.02.006 DO https://doi.org/10.1016/j.cell.2018.02.006 SF ELIB - SuUB Bremen
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