Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines
JAG1 和 NOTCH2 相关阿拉吉尔综合征的表型差异及疾病特异性 NOTCH2 变异分类指南
期刊:Liver International
影响因子:5.2
doi:10.1111/liv.70251
Vandriel, Shannon M; Li, Li-Ting; She, Huiyu; Wang, Jian-She; Loomes, Kathleen M; Piccoli, David A; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzińska, Dorota; D'Antiga, Lorenzo; Nicastro, Emanuele; Lacaille, Florence; Debray, Dominique; Sokal, Étienne M; Demaret, Tanguy; Fawaz, Rima L; Nastasio, Silvia; Kim, Kyung Mo; Oh, Seak Hee; Fischler, Björn; Arnell, Henrik; Larson-Nath, Catherine; Hardikar, Winita; Shankar, Sahana; Sundaram, Shikha S; Chaidez, Alexander; Bulut, Pinar; Calvo, Pier Luigi; Kasahara, Mureo; Blondet, Niviann; Lurz, Eberhard; Kavallar, Anna-Maria; Gonzales, Emmanuel M; Jacquemin, Emmanuel; Bouligand, Jérôme; Ebel, Noelle H; Feinstein, Jeffrey A; Siew, Susan M; Stormon, Michael O; Karpen, Saul J; Romero, Rene; Jensen, M Kyle; Jaramillo, Catalina; Squires, James E; Bedoyan, Sarah M; Kelly, Deirdre A; Hartley, Jane; Verkade, Henkjan J; Lee, Way Seah; Lertudomphonwanit, Chatmanee; Fischer, Ryan T; Lin, Henry C; Rock, Nathalie; Mozer-Glassberg, Yael; Roberts, Amin J; Evans, Helen M; Karnsakul, Wikrom; Nebbia, Gabriella; Wolters, Victorien M; Valentino, Pamela L; Bernabeu, Jesus Quintero; Aqul, Amal A; Arikan, Cigdem; Tamara, María Legarda; Busoms, Cristina Molera; Sandahl, Thomas Damgaard; Indolfi, Giuseppe; Zizzo, Andréanne N; Zellos, Aglaia; Quiros-Tejeira, Ruben E; Santos-Silva, Ermelinda; Schwarz, Kathleen B; Brecelj, Jernej; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Tzivinikos, Christos; Wiecek, Sabina; Eshun, John; Kerkar, Nanda; Mujawar, Quais; Önal, Zerrin; Gonçalves, Cristina; Garcia, Jennifer; Alam, Seema; Jimenez-Rivera, Carolina; Bujanda, Luis; Thompson, Richard J; Hansen, Bettina E; Spinner, Nancy B; Gilbert, Melissa A; Kamath, Binita M