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1 Ergebnisse
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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquiti..:
Muona, Mikko
;
Ishimura, Ryosuke
;
Laari, Anni
...
10.1016/j.ajhg.2016.06.020. , 2017
Link:
http://hdl.handle.net/10138/228037
RT Journal T1
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy
UL https://suche.suub.uni-bremen.de/peid=base-ftunivhelsihelda:oai:helda.helsinki.fi:10138_228037&Exemplar=1&LAN=DE A1 Muona, Mikko A1 Ishimura, Ryosuke A1 Laari, Anni A1 Ichimura, Yoshinobu A1 Linnankivi, Tarja A1 Keski-Filppula, Riikka A1 Herva, Riitta A1 Rantala, Heikki A1 Paetau, Anders A1 Pöyhönen, Minna A1 Obata, Miki A1 Uemura, Takefumi A1 Karhu, Thomas A1 Bizen, Norihisa A1 Takebayashi, Hirohide A1 McKee, Shane A1 Parker, Michael J A1 Akawi, Nadia A1 McRae, Jeremy A1 Hurles, Matthew E A1 Kuismin, Outi A1 Kurki, Mitja I A1 Anttonen, Anna-Kaisa A1 Tanaka, Keiji A1 Palotie, Aarno A1 Waguri, Satoshi A1 Lehesjoki, Anna-Elina A1 Komatsus, Masaaki A1 DDD Study PB Cell Press YR 2017 K1 DNA-SEQUENCING DATA K1 FOLD MODIFIER K1 DISCOVERY K1 DISRUPTION K1 FRAMEWORK K1 SYSTEM K1 MICE K1 3112 Neurosciences K1 3111 Biomedicine JF 10.1016/j.ajhg.2016.06.020 LK http://hdl.handle.net/10138/228037 DO http://hdl.handle.net/10138/228037 SF ELIB - SuUB Bremen
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