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Clinical and Neuroradiological Spectrum of Biallelic Variants in NOTCH3

Pablo Iruzubieta,Cesar Augusto Pinheiro Ferreira Alves,Aisha M. Al Shamsi,Gehad Elghazali,Maha S. Zaki,Lorenzo Pinelli,Diego Lopergolo,Bernard P. H. Cho,Amy A. Jolly,Amna Al Futaisi,Fatema Al-Amrani,Jessica Galli,Elisa Fazzi, Katarina Vulin,Francisco Barajas-Olmos,Holger Hengel, Bayan Mohammed Aljamal,Vahideh Nasr,Farhad Assarzadegan,Michele Ragno,Luigi Trojano, Naomi Meave Ojeda,Arman Cakar,Silvia Bianchi,Francesca Pescini,Anna Poggesi, Amal Al Tenalji, Majid Aziz, Rahema Mohammad,Aziza Chedrawi,Nicola De Stefano,Giovanni Zifarelli,Ludger Schoels,Tobias B. Haack,Adriana Rebelo,Stephan Zuchner,Filiz Koc,Lyn R. Griffiths,Lorena Orozco, Karla Garcia Helmes,Meisam Babaei,Peter Bauer,Won Chan Jeong,Ehsan Ghayoor Karimiani,Miriam Schmidts,Joseph G. Gleeson,Wendy K. Chung,Fowzan Sami Alkuraya,Bita Shalbafan,Hugh S. Markus,Henry Houlden,Reza Maroofian

EBioMedicine（2024）

Cited 0|Views37
Key words
NOTCH3,CADASIL,Leukoencephalopathy,Stroke,Neurodevelopmental disorders
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