Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
Giugliani, Roberto, Castillo Taucher, Silvia, Hafez, Sylvia, Oliveira, Joao Bosco, Rico-Restrepo, Mariana, Rozenfeld, Paula, Zarante, Ignacio, Gonzaga-Jauregui, Claudia
Published in Frontiers in genetics (08.12.2022)
Published in Frontiers in genetics (08.12.2022)
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Journal Article
A pigmentary skin defect is a new finding in Marshall-Smith syndrome
Passalacqua, Cristóbal, Melo, Camila, Martín, Luz María, Rojas, Francisca, Sanz, Patricia, Taucher, Silvia Castillo, Aranibar, Ligia
Published in American journal of medical genetics. Part A (01.08.2011)
Published in American journal of medical genetics. Part A (01.08.2011)
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Journal Article
Services for the care and prevention of birth defects. Reduced report of a World Health Organization and March of Dimes Foundation meeting
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Journal Article
Conference Proceeding
Beare‐Stevenson syndrome: Two south american patients with FGFR2 analysis
Vargas, Rosa Andrea Pardo, Maegawa, Gustavo Henrique Boff, Taucher, Silvia Castillo, Leite, Júlio César L., Sanz, Patricia, Cifuentes, Juan, Parra, Mauro, Muñoz, Hernán, Maranduba, Carlos Magno, Passos‐Bueno, Maria R.
Published in American journal of medical genetics. Part A (15.08.2003)
Published in American journal of medical genetics. Part A (15.08.2003)
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Journal Article
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
Royer-Bertrand, Beryl, Castillo-Taucher, Silvia, Moreno-Salinas, Rodrigo, Cho, Tae-Joon, Chae, Jong-Hee, Choi, Murim, Kim, Ok-Hwa, Dikoglu, Esra, Campos-Xavier, Belinda, Girardi, Enrico, Superti-Furga, Giulio, Bonafé, Luisa, Rivolta, Carlo, Unger, Sheila, Superti-Furga, Andrea
Published in Scientific reports (24.11.2015)
Published in Scientific reports (24.11.2015)
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Journal Article
Raine syndrome: An overview
Faundes, Víctor, Castillo-Taucher, Silvia, Gonzalez-Hormazabal, Patricio, Chandler, Kate, Crosby, Andrew, Chioza, Barry
Published in European journal of medical genetics (01.09.2014)
Published in European journal of medical genetics (01.09.2014)
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Journal Article
Hemifacial myohyperplasia: An additional case
Taucher, Silvia Castillo, Vargas, Rosa A. Pardo, León, Doris Cauvi
Published in American journal of medical genetics. Part A (01.01.2003)
Published in American journal of medical genetics. Part A (01.01.2003)
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Journal Article
A CONSORTIUM FOR STUDYING THE EFFECTS OF THE PRENATAL EXPOSURE TO ALCOHOL, TOBACCO AND DRUGS IN LATIN AMERICA
Rojas-Martínez, Augusto, Sanseverino, María Teresa V, Del Campo, Miguel, Castillo-Taucher, Silvia
Published in BAG. Journal of basic and applied genetics (01.05.2020)
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Published in BAG. Journal of basic and applied genetics (01.05.2020)
Journal Article
Genetics of congenital deafness
Faundes, Víctor, Pardo, Rosa Andrea, Castillo Taucher, Silvia
Published in Medicina clinica (20.10.2012)
Published in Medicina clinica (20.10.2012)
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Journal Article
Cáncer hereditario de colon: Aportes del diagnóstico genético molecular
ARAVENA, TERESA, PASSALACQUA, CRISTÓBAL, CASTILLO TAUCHER, SILVIA
Published in Revista medíca de Chile (01.12.2010)
Published in Revista medíca de Chile (01.12.2010)
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