PIGC-related encephalopathy: Lessons learned from 18 new probands
PIGC相关性脑病:从18例新先证者中汲取的经验教训
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01923-9
Bayat, Allan; Borroto, Maria Carla; Salian, Smrithi; Zaki, Maha S; Benkerroum, Hind; Elbendary, Hasnaa M; Nguyen, Thi Tuyet Mai; Sadek, Abdelrahim A; Carli, Diana; Brusco, Alfredo; Ferrero, Giovanni Battista; Tartaglia, Marco; Hay, Eleanor; Krey, Ilona; A Jamra, Rami; Bartolomaeus, Tobias; Knaus, Alexej; Gleeson, Joseph G; Houlden, Henry; Dominik, Natalia; Jackson, Adam; Douzgou Houge, Sofia; Banka, Siddharth; Mohammadi-Asl, Javad; Hajjari, Mohammadreza; Azizimalamiri, Reza; Nourbakhsh, Pardis; Neissi, Mostafa; Scardamaglia, Annarita; Li, Dianfan; Kinoshita, Taroh; Maroofian, Reza; Murakami, Yoshiko; Campeau, Philippe M