Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
Iruzubieta P, Pinheiro Ferreira Alves C, Al Shamsi AM, ElGhazali G, Zaki MS, Pinelli L, Lopergolo D, Cho BPH, Jolly AA, Al Futaisi A, Al-Amrani F, Galli J, Fazzi E, Vulin K, Barajas-Olmos F, Hengel H, Aljamal BM, Nasr V, Assarzadegan F, Ragno M, Trojano L, Ojeda NM, Cakar A, Bianchi S, Pescini F, Poggesi A, Al Tenalji A, Aziz M, Mohammad R, Chedrawi A, De Stefano N, Zifarelli G, Schöls L, Haack TB, Rebelo A, Zuchner S, Koc F, Griffiths LR, Orozco L, Garcia Helmes K, Babaei M, Bauer P, Jeong WC, Ghayoor Karimiani E, Schmidts M, Gleeson JG, Chung WK, Alkuraya FS, Shalbafan B, Markus HS, Houlden H, Maroofian R.
EBioMedicine. 2024 Sep; doi: 10.1016/j.ebiom.2024.105297. Epub 2024 Aug 26.
