Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
NOTCH3基因双等位基因变异的临床和神经放射学表现谱
期刊:EBioMedicine
影响因子:10.8
doi:10.1016/j.ebiom.2024.105297
Iruzubieta, Pablo; Alves, César Augusto Pinheiro Ferreira; Al Shamsi, Aisha M; ElGhazali, Gehad; Zaki, Maha S; Pinelli, Lorenzo; Lopergolo, Diego; Cho, Bernard P H; Jolly, Amy A; Al Futaisi, Amna; Al-Amrani, Fatema; Galli, Jessica; Fazzi, Elisa; Vulin, Katarina; Barajas-Olmos, Francisco; Hengel, Holger; Aljamal, Bayan Mohammed; Nasr, Vahideh; Assarzadegan, Farhad; Ragno, Michele; Trojano, Luigi; Ojeda, Naomi Meave; Çakar, Arman; Bianchi, Silvia; Pescini, Francesca; Poggesi, Anna; Al Tenalji, Amal; Aziz, Majid; Mohammad, Rahema; Chedrawi, Aziza; De Stefano, Nicola; Zifarelli, Giovanni; Schöls, Ludger; Haack, Tobias B; Rebelo, Adriana; Zuchner, Stephan; Koc, Filiz; Griffiths, Lyn R; Orozco, Lorena; Helmes, Karla García; Babaei, Meisam; Bauer, Peter; Chan Jeong, Won; Karimiani, Ehsan Ghayoor; Schmidts, Miriam; Gleeson, Joseph G; Chung, Wendy K; Alkuraya, Fowzan Sami; Shalbafan, Bita; Markus, Hugh S; Houlden, Henry; Maroofian, Reza