AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature

por Huynh, Minh-Tuan, Proust, Alexis, Bouligand, Jérôme, Popescu, Elena
Publicado 2022

Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature

por Huynh, Minh-Tuan, Landais, Emilie, Agathe, Jean-Madeleine De Sainte, Panchout, Anne, Caroline, De Vanssay De Blavous-Legendre, Bruel, Henri
Publicado 2023

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report

por Bui, Thi Phuong Hoa, Nguyen, Ngoc Tu, Ngo, Van Doan, Nguyen, Hoai-Nghia, Ly, Thi Thanh Ha, Do, Huy Duong, Huynh, Minh-Tuan
Publicado 2020