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MORLEO M
Collezione AOU Novara

  

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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase. in American journal of human genetics / Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005.
2024
AOU Novara

Jones AG; Aquilino M; Tinker RJ; Duncan L; Jenkins Z; Carvill GL; DeWard SJ; Grange DK; Hajianpour MJ; Halliday BJ; Holder-Espinasse M; Horvath J; Maitz S; Nigro V; Morleo M; Paul V; Spencer C; Esterhuizen AI; Polster T; Spano A; Gómez-Lozano I; Kumar A; Poke G; Phillips JA 3rd; Underhill HR; Gimenez G; Namba T; Robertson SP;

2021
AOU Novara

Klionsky DJ; Abdel-Aziz AK; Abdelfatah S; Abdellatif M; Abdoli A; Abel S; Abeliovich H; Abildgaard MH; Abudu YP; Acevedo-Arozena A; Adamopoulos IE; Adeli K; Adolph TE; Adornetto A; Aflaki E; Agam G; Agarwal A; Aggarwal BB; Agnello M; Agostinis P; Agrewala JN; Agrotis A; Aguilar PV; Ahmad ST; Ahmed ZM; Ahumada-Castro U; Aits S; Aizawa S; Akkoc Y; et alii...