Neonatal screening for spinal muscular atrophy: A pilot study in Brazil von Oliveira Netto, Alice Brinckmann, Brusius-Facchin, Ana Carolina, Lemos, Júlia F, Pasetto, Fernanda B, Brasil, Carolina S, Trapp, Franciele B, Saute, Jonas Alex Morales, Donis, Karina Carvalho, Becker, Michele Michelin, Wiest, Paloma, Coutinho, Vivian L S, Castro, Simone, Ferreira, Juliana, Silveira, Cynthia, Bittar, Maria Fernanda R, Wang, Cristina, Lana, Janaina M, França Junior, Marcondes Cavalcante, Giugliani, Roberto

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Gene-environment interactions and preterm birth predictors: A Bayesian network approach von Elias, Dario E, Santos, Maria R, Campaña, Hebe, Poletta, Fernando A, Heisecke, Silvina L, Gili, Juan A, Ratowiecki, Julia, Cosentino, Viviana R, Uranga, Rocio, Málaga, Diana Rojas, Oliveira Netto, Alice Brinckmann, Brusius-Facchin, Ana Carolina, Saleme, César, Rittler, Mónica, Krupitzki, Hugo B, Camelo, Jorge S Lopez, Gimenez, Lucas G

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Genes, exposures, and interactions on preterm birth risk: an exploratory study in an Argentine population von Elias, Dario E., Santos, Maria R., Campaña, Hebe, Poletta, Fernando A., Heisecke, Silvina L., Gili, Juan A., Ratowiecki, Julia, Cosentino, Viviana, Uranga, Rocio, Málaga, Diana Rojas, Netto, Alice Brinckmann Oliveira, Brusius-Facchin, Ana Carolina, Saleme, César, Rittler, Mónica, Krupitzki, Hugo B., Camelo, Jorge S. Lopez, Gimenez, Lucas G.

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Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing von Oliveira Netto, Alice Brinckmann, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Kubaski, Francyne, Josahkian, Juliana, Giugliani, Roberto

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O49: Newborn screening for spinal muscular atrophy using real-time PCR: A pilot study in Brazil von Oliveira Netto, Alice Brinckmann, Brusius Facchin, Ana Carolina, Lemos, Julia, Pasetto, Fernanda Bender, Wiest, Paloma, Coutinho, Vivian, Castro, Simone, Ferreira, Juliana, Silveira, Cynthia, Bittar, Maria Fernanda, Forestiero, Francisco, Wang, Cristina, de Lana, Janaina Martins, Franca, Marcondes Cavalcante, Giugliani, Roberto

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Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives von Kubaski, Francyne, Sousa, Inês, Amorim, Tatiana, Pereira, Danilo, Trometer, Joe, Souza, Alexandre, Ranieri, Enzo, Polo, Giulia, Burlina, Alberto, Brusius-Facchin, Ana Carolina, Netto, Alice Brinckmann Oliveira, Tomatsu, Shunji, Giugliani, Roberto

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Utilization of next generation sequencing technology for detection of mosaic variants in the IDS gene von Netto, Alice Brinckmann Oliveira, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Kubaski, Francyne, Giugliani, Roberto

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MAY LYSOSOMAL-RELATED GENES BE LINKED TO ATYPICAL PARKINSONISM? A BRAZILIAN STUDY von Schwartz, Ida Vanessa Doederlein, Pasqualotto, Amanda, Schuh, Artur Francisco Schumacher, de Mello Rieder, Carlos Roberto, Sperb-Ludwig, Fernanda, Strelow, Matheus Zschornack, Netto, Alice Brinckmann Oliveira, Facchin, Ana Carolina Brusius, Giugliani, Roberto, Siebert, Marina

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Prenatal diagnosis of Pompe disease von Netto, Alice Brinckmann Oliveira, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Kessler, Rejane Gus, Tirelli, Kristiane M., Pasetto, Fernanda B., Sebastião, Fernanda M., Kubaski, Francyne, de Camargo Pinto, Louise Lapagesse, Giugliani, Roberto

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A Brazilian patient with late infantile metachromatic leukodystrophy treated with lentiviral hematopoietic stem-cell gene therapy: A report from prenatal diagnosis to early treatme... von Faqueti, Larissa, Iop, Gabrielle, da Silva, Layzon Antonio Lemos, Kubaski, Francyne, Borges, Henrique B.L., Netto, Alice Brinckmann Oliveira, Brusius-Facchin, Ana C., Leistner-Segal, Sandra, Gus, Rejane, Sanseverino, Maria Teresa V., Michelin-Tirelli, Kristiane, Pasetto, Fernanda Bender, Sebastiao, Fernanda Medeiros, Silva, Thiago Oliveira, Magalhães, José Antonio Azevedo, de Souza, Carolina Fischinger Moura, Recupero, Salvatore, Calbi, Valeria, Fumagalli, Francesca, Aiuti, Alessandro, Giugliani, Roberto

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Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal... von Alice Brinckmann Oliveira Netto, Diana Rojas Málaga, Francyne Kubaski, Ana Carolina Brusius Facchin, Roberto Giugliani

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Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal... von Netto, Alice Brinckmann Oliveira, Málaga, Diana Rojas, Kubaski, Francyne, Facchin, Ana Carolina Brusius, Giugliani, Roberto

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The electronic magazine “A Bioquímica como ela é” as a learning tool in science communication von Fonseca Moreira, José Cláudio, Brinckmann Oliveira Netto, Alice

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