Hasil Pencarian - 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 Brazil: the case of lysosomal storage disorders

    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... oleh Raquel Boy, Fermin Roland Schramm

    Diterbitkan 2009-06-01
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  2. 2
    Geleophysic dysplasia: Report on two sibs

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

    Diterbitkan 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

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

    Diterbitkan 2001-03-01
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  4. 4
    Chromosome 6q deletion: Report of a new case and review of the literature

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

    Diterbitkan 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

    Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion oleh 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

    Diterbitkan 2020-03-01
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  6. 6
    Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

    Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. oleh 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

    Diterbitkan 2017-01-01
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  7. 7
    Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

    Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. oleh 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

    Diterbitkan 2017-01-01
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  8. 8
    Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

    Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment oleh 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

    Diterbitkan 2010-01-01
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  9. 9
    Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

    Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability oleh Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

    Diterbitkan 2022-01-01
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