Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability von Mattos, Eduardo P., Silva, André Anjos da, Magalhães, José Antônio A, Leite, Júlio César L., Leistner-Segal, Sandra, Gus-Kessler, Rejane, Perez, Juliano Adams, Vedolin, Leonardo M., Torreblanca-Zanca, Albertina, Lapunzina, Pablo, Ruiz-Perez, Victor L., Sanseverino, Maria Teresa V.

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Monoolein-based nanoparticles for drug delivery to the central nervous system: A platform for lysosomal storage disorder treatment von Donida, Bruna, Tauffner, Bárbara, Raabe, Marco, Immich, Maira F., de Farias, Marcelo A., de Sá Coutinho, Diego, Machado, Andryele Zaffari, Kessler, Rejane Gus, Portugal, Rodrigo V., Bernardi, Andressa, Frozza, Rudimar, Moura, Dinara J., Poletto, Fernanda, Vargas, Carmen Regla

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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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Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients von Hammerschmidt, Tatiane Grazieli, de Oliveira Schmitt Ribas, Graziela, Saraiva-Pereira, Maria Luiza, Bonatto, Márcia Polese, Kessler, Rejane Gus, Souza, Fernanda Timm Seabra, Trapp, Franciele, Michelin-Tirelli, Kristiane, Burin, Maira Graeff, Giugliani, Roberto, Vargas, Carmen Regla

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Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII von Kubaski, Francyne, Brusius‐Facchin, Ana Carolina, Mason, Robert W., Patel, Pravin, Burin, Maira G., Michelin‐Tirelli, Kristiane, Kessler, Rejane Gus, Bender, Fernanda, Leistner‐Segal, Sandra, Moreno, Carolina A., Cavalcanti, Denise P., Giugliani, Roberto, Tomatsu, Shunji

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Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII: Prenatal diagnosis of an MPS VII fetus von Kubaski, Francyne, Brusius-Facchin, Ana Carolina, Mason, Robert W., Patel, Pravin, Burin, Maira G., Michelin-Tirelli, Kristiane, Kessler, Rejane Gus, Bender, Fernanda, Leistner-Segal, Sandra, Moreno, Carolina A., Cavalcanti, Denise P., Giugliani, Roberto, Tomatsu, Shunji

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Oxysterol measurement in plasma: A potentially useful tool for the screening of Niemann–Pick disease type C disease von Giugliani, Roberto, Ribas, Graziela, Civallero, Gabriel, de Souzal, Heryk Motta, Burin, Maira, Michelin-Tirelli, Kristiane, Saraiva-Pereira, Maria Luiza, Polese-Bonatto, Márcia, Gil, Mirela Severo, Kessler, Rejane Gus, Souza, Fernanda Timm, Freitas, Talita, Souza, Carolina, Vairo, Filippo Pinto, Rafaelli, Célio Luiz, Trapp, Franciele Barbosa, Vargas, Carmen Regla

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Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report von Alegra, Taciane, Koppe, Tiago, Acosta, Angelina, Sarno, Manoel, Burin, Maira, Kessler, Rejane Gus, Sperb-Ludwig, Fernanda, Cury, Gabriela, Baldo, Guilherme, Matte, Ursula, Giugliani, Roberto, Schwartz, Ida Vanessa D.

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Hidropisia fetal não imune: experiência de duas décadas num hospital universitário von Fritsch, Alessandra, Müller, Ana Lúcia Letti, Sanseverino, Maria Teresa Vieira, Kessler, Rejane Gus, Barrios, Patricia Martins Moura, Patusco, Lucas Mohr, Magalhães, José Antonio de Azevedo

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Hidropisia fetal não imune: experiência de duas décadas num hospital universitário Nonimmune hydrops fetalis: two decades of experience in a university hospital von Alessandra Fritsch, Ana Lúcia Letti Müller, Maria Teresa Vieira Sanseverino, Rejane Gus Kessler, Patricia Martins Moura Barrios, Lucas Mohr Patusco, José Antonio de Azevedo Magalhães

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Nonimmune hydrops fetalis: two decades of experience in a university hospital von Fritsch, Alessandra, Müller, Ana Lúcia Letti, Sanseverino, Maria Teresa Vieira, Kessler, Rejane Gus, Barrios, Patricia Martins Moura, Patusco, Lucas Mohr, Magalhães, José Antonio de Azevedo

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Hidropisia fetal não imune: experiência de duas décadas num hospital universitário von Fritsch, Alessandra, Müller, Ana Lúcia Letti, Sanseverino, Maria Teresa Vieira, Kessler, Rejane Gus, Barrios, Patricia Martins Moura, Patusco, Lucas Mohr, Magalhães, José Antonio de Azevedo

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The Contribution of Molecular Techniques in Prenatal Diagnosis and Post mortem Fetus with Multiple Malformation von Kessler, Rejane Gus

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Chromosome analysis in 31 cases of benign and malignant breast tumors: a study in Brazil von BENETTI, MARA REGINA NETTO, KESSLER, REJANE GUS, BITTELBRUNN, ANA CRISTINA, FRANTZ, BÁRBARA, BIAZUS, JORGE VILLANOVA, GIUGLIANI, ROBERTO

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