Výsledky vyhledávání - Silvia Castillo‐Taucher
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Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America Autor Roberto Giugliani, Silvia Castillo Taucher, Sylvia Hafez, João Bosco Oliveira, Mariana Rico-Restrepo, Paula Rozenfeld, Ignacio Zarante, Claudia Gonzaga‐Jauregui
Vydáno 2022Revisão -
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Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia Autor 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
Vydáno 2015Artigo
Vyhledávací nástroje:
Související témata
Medicine
Bioinformatics
Biology
Dysplasia
Economic growth
Economics
Face (sociological concept)
Family medicine
Gene
Genetics
Government (linguistics)
Health care
Heat shock protein
Latin Americans
Law
Linguistics
Mutation
Newborn screening
Pathology
Pediatrics
Philosophy
Political science
Social science
Sociology