Canlyniadau Chwilio - Silvia Castillo‐Taucher

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Mireinio'r Canlyniadau
  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 gan Roberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, João Bosco Oliveira, Mariana Rico-Restrepo, Paula Rozenfeld, Ignacio Zarante, Claudia Gonzaga‐Jauregui

    Cyhoeddwyd 2022
    Cael y testun llawn Cael y testun llawn
    Revisão
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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 gan 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

    Cyhoeddwyd 2015
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:

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