Resultats de la cerca - Silvia Castillo‐Taucher

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  1. 1
    Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

    Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America per Roberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, João Bosco Oliveira, Mariana Rico-Restrepo, Paula Rozenfeld, Ignacio Zarante, Claudia Gonzaga‐Jauregui

    Publicat 2022
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  2. 2
    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

    Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia per Béryl Royer‐Bertrand, Silvia Castillo‐Taucher, Rodrigo Moreno-Salinas, Tae‐Joon Cho, Jong‐Hee Chae, Murim Choi, Ok-Hwa Kim, Esra Dikoglu, Belinda Campos‐Xavier, Enrico Girardi, Giulio Superti‐Furga, Luisa Bonafé, Carlo Rivolta, Sheila Unger, Andrea Superti‐Furga

    Publicat 2015
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