Torthaí cuardaigh - Anni Laari

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  1. 1
    Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

    Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate de réir Anna-Kaisa Anttonen, Taru Hilander, Tarja Linnankivi, Pirjo Isohanni, Rachel L. French, Yuchen Liu, Miljan Simonović, Dieter Söll, Mirja Somer, Dorota Muth‐Pawlak, Garry L. Corthals, Anni Laari, Emil Ylikallio, Marja Lähde, Leena Valanne, Tuula Lönnqvist, Helena Pihko, Anders Paetau, Anna-Elina Lehesjoki, Anu Suomalainen, Henna Tyynismaa

    Foilsithe / Cruthaithe 2015
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  2. 2
    Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

    Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy de réir Mikko Muona, Ryosuke Ishimura, Anni Laari, Yoshinobu Ichimura, Tarja Linnankivi, Riikka Keski‐Filppula, Riitta Herva, Heikki Rantala, Anders Paetau, Minna Pöyhönen, Miki Obata, Takefumi Uemura, Thomas Karhu, Norihisa Bizen, Hirohide Takebayashi, Shane McKee, Michael Parker, Nadia Akawi, Jeremy F. McRae, Matthew E. Hurles, Outi Kuismin, Mitja Kurki, Anna‐Kaisa Anttonen, Keiji Tanaka, Aarno Palotie, Satoshi Waguri, Anna‐Elina Lehesjoki, Masaaki Komatsu

    Foilsithe / Cruthaithe 2016
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