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× Orphanet Journal of Rare Disease
来源:Orphanet Journal of Rare Diseases , 2019
作者:Modesta Pousada Fernández;Beni Gómez-Zúñiga;Alicia García Oliva;等
关键词:Doctor-family communication;Rare diseases;...
使用许可:CC BY
来源:Orphanet Journal of Rare Diseases , 2019
作者:Siyan Zhan;Yan Li;Hui Liu;等
关键词:Rare diseases;Hospitalization;...
使用许可:CC BY
来源:Orphanet Journal of Rare Diseases , 2019
作者:Yunae Eom;Jiyoon Lee;Aram Yang;等
关键词:Prader-Willi syndrome;Growth hormone therapy;...
使用许可:CC BY
来源:Orphanet Journal of Rare Diseases , 2019
作者:Věra Malinová;Mercedes Pineda;Miriam Kolniková;等
关键词:Niemann-Pick disease Type C;NP-C;...
使用许可:CC BY
来源:Orphanet Journal of Rare Diseases , 2019
作者:Yoko Aoki;Tetsuya Niihori;Ryo Funayama;等
关键词:Vascular anomaly;Kaposiform lymphangiomatosis;...
使用许可:CC BY
6 OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database [期刊论文]
来源:Orphanet Journal of Rare Diseases , 2019
作者:Dan Milea;Marc Ferré;Thomas Foulonneau;等
关键词:OPA1;Dominant optic atrophy;...
使用许可:CC BY