Search Results - Raquel Boy

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  1. 1

    Bioética da proteção e tratamento de doenças genéticas raras no Brasil: o caso das doenças de depósito lisossomal Principle of protection and treatment of rare genetic diseases in... by Raquel Boy, Fermin Roland Schramm

    Published in Cadernos de Saúde Pública (2009-06-01)
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  2. 2

    Geleophysic dysplasia: Report on two sibs by Raquel Boy, Juan Llerena, Márcia Mattos Gonçalves Pimentel, José Carlos Cabral de Almeida

    Published in Genetics and Molecular Biology (1998-03-01)
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  3. 3

    Síndrome do X frágil: estudo caso-controle envolvendo pacientes pré e pós-puberais com diagnóstico confirmado por análise molecular by Raquel Boy, Patrícia Santana Correia, Juan Clinton Llerena, Maria do Carmo Machado-Ferreira, Márcia Mattos Gonçalves Pimentel

    Published in Arquivos de Neuro-Psiquiatria (2001-03-01)
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  4. 4

    Chromosome 6q deletion: Report of a new case and review of the literature by Raquel Boy, Márcia Mattos Gonçalves Pimentel, Ana Paula Hemerly, Maria do Perpétuo Socorro Silva, Ana Paula Barreiro, José Carlos Cabral de Almeida, Juan Llerena

    Published in Genetics and Molecular Biology (1998-03-01)
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  5. 5

    Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion by Cíntia B. Santos-Rebouças, Raquel Boy, Evelyn Q. Vianna, Andressa P. Gonçalves, Rafael M. Piergiorge, Bianca B. Abdala, Jussara M. dos Santos, Veluma Calassara, Filipe B. Machado, Enrique Medina-Acosta, Márcia M. G. Pimentel

    Published in Frontiers in Genetics (2020-03-01)
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  6. 6

    Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. by Taciane Borsatto, Fernanda Sperb-Ludwig, Samyra E Lima, Maria R S Carvalho, Pablo A S Fonseca, José S Camelo, Erlane M Ribeiro, Paula F V de Medeiros, Charles M Lourenço, Carolina F M de Souza, Raquel Boy, Têmis M Félix, Camila M Bittar, Louise L C Pinto, Eurico C Neto, Henk J Blom, Ida V D Schwartz

    Published in PLoS ONE (2017-01-01)
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  7. 7

    Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment by Roberto Giugliani, Andressa Federhen, Maria Verônica Muñoz Rojas, Taiane Vieira, Osvaldo Artigalás, Louise Lapagesse Pinto, Ana Cecília Azevedo, Angelina Acosta, Carmen Bonfim, Charles Marques Lourenço, Kim Chong Ae, Dafne Horovitz, Denize Bonfim, Denise Norato, Diane Marinho, Durval Palhares, Emerson Santana Santos, Erlane Ribeiro, Eugênia Valadares, Fábio Guarany, Gisele Rosone de Lucca, Helena Pimentel, Isabel Neves de Souza, Jordão Correa Neto, José Carlos Fraga, José Eduardo Goes, José Maria Cabral, José Simionato, Juan Llerena Jr., Laura Jardim, Liane Giuliani, Luiz Carlos Santana da Silva, Mara L. Santos, Maria Angela Moreira, Marcelo Kerstenetzky, Márcia Ribeiro, Nicole Ruas, Patricia Barrios, Paulo Aranda, Rachel Honjo, Raquel Boy, Ronaldo Costa, Carolina Souza, Flavio F. Alcantara, Silvio Gilberto A. Avilla, Simone Fagondes, Ana Maria Martins

    Published in Genetics and Molecular Biology (2010-01-01)
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