Search Results - Roberto Giugliani

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  1. 1
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    Importance of national and international registries of inborn errors of metabolism by Roberto Giugliani

    Published 2014
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  2. 2
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    Genética: uma ferramenta indispensável para o pediatra do século XXI Genetics: an essential tool for the pediatrician of the 21st century by Magda Lahorgue Nunes, Roberto Giugliani

    Published 2008
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  3. 3
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    Tratamento de erros inatos do metabolismo Treatment of inborn errors of metabolism by Ida Vanessa Schwartz, Carolina Fischinger Moura de Souza, Roberto Giugliani

    Published 2008
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  4. 4
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    Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances by Luiza Emy Dorfman, Júlio César L. Leite, Roberto Giugliani, Mariluce Riegel

    Published 2015
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  5. 5
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    Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances by Luiza Emy Dorfman, Júlio César L. Leite, Roberto Giugliani, Mariluce Riegel

    Published 2015
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  6. 6
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    Microarray‐based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances by Luiza Emy Dorfman, Júlio César L. Leite, Roberto Giugliani, Mariluce Riegel

    Published 2015
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  7. 7
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    Melanoma hereditário: prevalência de fatores de risco em um grupo de pacientes no Sul do Brasil Hereditary melanoma: prevalence of risk factors in a group of patients in Southern B... by Charles André Carvalho, Mauricio Estrela da Cunha, Roberto Giugliani, Lucio Bakos, Patrícia Ashton-Prolla

    Published 2004
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  8. 8
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    TGFA/Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil by Liliane Todeschini de Souza, Thayne Woycinck Kowalski, Ana Paula Vanz, Roberto Giugliani, Têmis Maria Félix

    Published 2012
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  9. 9
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    Triagem neonatal para hemoglobinopatias: um estudo piloto em Porto Alegre, Rio Grande do Sul, Brasil by Liane Esteves Daudt, Débora Zechmaister, Liliana Portal, Eurico Camargo Neto, Lúcia Mariano da Rocha Silla, Roberto Giugliani

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  10. 10
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    Triagem neonatal para hemoglobinopatias: um estudo piloto em Porto Alegre, Rio Grande do Sul, Brasil by Liane Esteves Daudt, Débora Zechmaister, Liliana Portal, Eurico Camargo Neto, Lúcia Mariano da Rocha Silla, Roberto Giugliani

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  11. 11
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    Triagem neonatal para hemoglobinopatias: um estudo piloto em Porto Alegre, Rio Grande do Sul, Brasil Neonatal screening for hemoglobinopathies: a pilot study in Porto Alegre, Rio G... by Liane Esteves Daudt, Débora Zechmaister, Liliana Portal, Eurico Camargo Neto, Lúcia Mariano da Rocha Silla, Roberto Giugliani

    Published 2002
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  12. 12
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    Infections in temporary access for hemodialysis in chronic renal failure patients / Infecção em acesso temporário para hemodiálise em pacientes com insuficiê... by Arion Saraiva Reisdorfer, Roberto Giugliani, Viviane de Araújo Gouveia, Emmanuela Kethully Mota dos Santos, José Jairo Teixeira da Silva

    Published 2019
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  13. 13
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    Infections in temporary access for hemodialysis in chronic renal failure patients / Infecção em acesso temporário para hemodiálise em pacientes com insuficiê... by Arion Saraiva Reisdorfer, Roberto Giugliani, Viviane de Araújo Gouveia, Emmanuela Kethully Mota dos Santos, José Jairo Teixeira da Silva

    Published 2019
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  14. 14
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    Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação da mobilidade articular e das forças de garra e de pinça Mucopolysaccharidosis type VI (Maroteaux-Lamy synd... by Antonio Cardoso-Santos, Ana C. M. M. Azevedo, Simone Fagondes, Maira G. Burin, Roberto Giugliani, Ida V. D. Schwartz

    Published 2008
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  15. 15
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    Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective by Têmis Maria Félix, Carolina Fischinger Moura de Souza, João Bosco Oliveira, Mariana Rico-Restrepo, Edmar Zanoteli, Mayana Zatz, Roberto Giugliani

    Published 2023
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  16. 16
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    RETRACTED: Wiesinger et al. An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis. <i>Pharmaceutics</i> 2023, <i>15</i>, 1565 by Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, Christina Lampe, Maurizio Scarpa, Tobias Moser, Christoph Kampmann, Georg Zimmermann, Florian B. Lagler

    Published 2023
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  17. 17
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    Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II Prospective study of 11 Brazilian patients with mucopolysaccharidosis II by Louise L. C. Pinto, Ida V. D. Schwartz, Ana C. S. Puga, Taiane A. Vieira, Maria Verônica R. Munoz, Roberto Giugliani

    Published 2006
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  18. 18
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    RETRACTED: An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis by Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, Christina Lampe, Maurizio Scarpa, Tobias Moser, Christoph Kampmann, Georg Zimmermann, Florian B. Lagler

    Published 2023
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  19. 19
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    IMPORTÂNCIA DA BIÓPSIA HEPÁTICA NO DIAGNÓSTICO DA DEFICIÊNCIA DE LIPASE ÁCIDA LISOSSOMAL: RELATO DE CASO by Adriana Maria Alves De Tommaso, Flávia Fonseca de Carvalho Barra, Gabriel Hessel, Carolina Araújo Moreno, Roberto Giugliani, Cecília Amélia Fazzio Escanhoela

    Published 2017
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  20. 20
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    A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean by Ignacio Zarante, Paula Hurtado-Villa, Salimah R. Walani, Vijaya Kancherla, Jorge López Camelo, Roberto Giugliani, Boris Groisman, Christopher P. Howson, Pablo Durán

    Published 2019
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