Filtros : "Indexado no Excerpta Médica" "IB-BIO" Limpar

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  • Source: American Journal of Medical Genetics. Unidades: IB, FM

    Subjects: GENÉTICA MÉDICA, DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA

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    • ABNT

      CARVALHO, Ellaine et al. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features. American Journal of Medical Genetics, p. on-line., 2015Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.36789. Acesso em: 31 out. 2024.
    • APA

      Carvalho, E., Honjo, R., Magalhães, M., Yamamoto, G., Rocha, K., Naslavsky, M., et al. (2015). Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features. American Journal of Medical Genetics, on-line. doi:10.1002/ajmg.a.36789
    • NLM

      Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features [Internet]. American Journal of Medical Genetics. 2015 ; on-line.[citado 2024 out. 31 ] Available from: https://doi.org/10.1002/ajmg.a.36789
    • Vancouver

      Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features [Internet]. American Journal of Medical Genetics. 2015 ; on-line.[citado 2024 out. 31 ] Available from: https://doi.org/10.1002/ajmg.a.36789
  • Source: Apidologie. Unidade: IB

    Assunto: DNA MITOCONDRIAL

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    • ABNT

      BRITO, Rute Magalhães e ARIAS, Maria Cristina. Mitochondrial DNA characterization of two Partamona species (Hymenoptera, Apidae, Meliponini) by PCR+RFLP and sequencing. Apidologie, v. 36, n. 3, p. 431-437, 2005Tradução . . Disponível em: https://doi.org/10.1051/apido:2005020. Acesso em: 31 out. 2024.
    • APA

      Brito, R. M., & Arias, M. C. (2005). Mitochondrial DNA characterization of two Partamona species (Hymenoptera, Apidae, Meliponini) by PCR+RFLP and sequencing. Apidologie, 36( 3), 431-437. doi:10.1051/apido:2005020
    • NLM

      Brito RM, Arias MC. Mitochondrial DNA characterization of two Partamona species (Hymenoptera, Apidae, Meliponini) by PCR+RFLP and sequencing [Internet]. Apidologie. 2005 ; 36( 3): 431-437.[citado 2024 out. 31 ] Available from: https://doi.org/10.1051/apido:2005020
    • Vancouver

      Brito RM, Arias MC. Mitochondrial DNA characterization of two Partamona species (Hymenoptera, Apidae, Meliponini) by PCR+RFLP and sequencing [Internet]. Apidologie. 2005 ; 36( 3): 431-437.[citado 2024 out. 31 ] Available from: https://doi.org/10.1051/apido:2005020
  • Source: Apidologie. Unidade: IB

    Subjects: ABELHAS, DNA MITOCONDRIAL

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    • ABNT

      WEINLICH, Ricardo e FRANCISCO, Flávio de Oliveira e ARIAS, Maria Cristina. Mitochondrial DNA restriction and genomic maps of seven species of Melipona (Apidae: Meliponini). Apidologie, v. 35, n. 4, p. 365-370, 2004Tradução . . Disponível em: https://doi.org/10.1051/apido:2004027. Acesso em: 31 out. 2024.
    • APA

      Weinlich, R., Francisco, F. de O., & Arias, M. C. (2004). Mitochondrial DNA restriction and genomic maps of seven species of Melipona (Apidae: Meliponini). Apidologie, 35( 4), 365-370. doi:10.1051/apido:2004027
    • NLM

      Weinlich R, Francisco F de O, Arias MC. Mitochondrial DNA restriction and genomic maps of seven species of Melipona (Apidae: Meliponini) [Internet]. Apidologie. 2004 ; 35( 4): 365-370.[citado 2024 out. 31 ] Available from: https://doi.org/10.1051/apido:2004027
    • Vancouver

      Weinlich R, Francisco F de O, Arias MC. Mitochondrial DNA restriction and genomic maps of seven species of Melipona (Apidae: Meliponini) [Internet]. Apidologie. 2004 ; 35( 4): 365-370.[citado 2024 out. 31 ] Available from: https://doi.org/10.1051/apido:2004027
  • Source: Neuromuscular Disorders. Unidades: IB, FM

    Subjects: DISTROFIA MUSCULAR, DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA, ELETROFISIOLOGIA

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    • ABNT

      ABE, Kikue Terada et al. A novel stop codon mutation in the PMP22 gene associated with a variable phenotype. Neuromuscular Disorders, v. 14, n. 5, p. 313-320, 2004Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2004.01.007. Acesso em: 31 out. 2024.
    • APA

      Abe, K. T., Lino, A. M. M., Hirata, M. T. A., Pavanello, R. de C. M., Brotto, M. W. I., Marchiori, P. E., & Zatz, M. (2004). A novel stop codon mutation in the PMP22 gene associated with a variable phenotype. Neuromuscular Disorders, 14( 5), 313-320. doi:10.1016/j.nmd.2004.01.007
    • NLM

      Abe KT, Lino AMM, Hirata MTA, Pavanello R de CM, Brotto MWI, Marchiori PE, Zatz M. A novel stop codon mutation in the PMP22 gene associated with a variable phenotype [Internet]. Neuromuscular Disorders. 2004 ; 14( 5): 313-320.[citado 2024 out. 31 ] Available from: https://doi.org/10.1016/j.nmd.2004.01.007
    • Vancouver

      Abe KT, Lino AMM, Hirata MTA, Pavanello R de CM, Brotto MWI, Marchiori PE, Zatz M. A novel stop codon mutation in the PMP22 gene associated with a variable phenotype [Internet]. Neuromuscular Disorders. 2004 ; 14( 5): 313-320.[citado 2024 out. 31 ] Available from: https://doi.org/10.1016/j.nmd.2004.01.007
  • Source: Diagnostic Molecular Pathology. Unidade: IB

    Subjects: DISTROFIA MUSCULAR, DIAGNÓSTICO PRÉ-NATAL

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    • ABNT

      YAMAMOTO, Lydia Uraco et al. Protein and DNA Analysis for the prenatal diagnosis of 'alpha'2-Laminin-Deficient congenital muscular dystrophy. Diagnostic Molecular Pathology, v. 13, n. 3, p. 167-171, 2004Tradução . . Acesso em: 31 out. 2024.
    • APA

      Yamamoto, L. U., Gallop, T. R., Naccache, N. F., Pavanello, R. de C. M., Zanoteli, E., Zatz, M., & Vainzof, M. (2004). Protein and DNA Analysis for the prenatal diagnosis of 'alpha'2-Laminin-Deficient congenital muscular dystrophy. Diagnostic Molecular Pathology, 13( 3), 167-171.
    • NLM

      Yamamoto LU, Gallop TR, Naccache NF, Pavanello R de CM, Zanoteli E, Zatz M, Vainzof M. Protein and DNA Analysis for the prenatal diagnosis of 'alpha'2-Laminin-Deficient congenital muscular dystrophy. Diagnostic Molecular Pathology. 2004 ; 13( 3): 167-171.[citado 2024 out. 31 ]
    • Vancouver

      Yamamoto LU, Gallop TR, Naccache NF, Pavanello R de CM, Zanoteli E, Zatz M, Vainzof M. Protein and DNA Analysis for the prenatal diagnosis of 'alpha'2-Laminin-Deficient congenital muscular dystrophy. Diagnostic Molecular Pathology. 2004 ; 13( 3): 167-171.[citado 2024 out. 31 ]
  • Source: Nature Genetics. Unidade: IB

    Subjects: CROMOSSOMOS, CLONAGEM ANIMAL

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    • ABNT

      XUE, Fei et al. Aberrant patterns of X chromosome inactivation in bovine clones. [Letter]. Nature Genetics, v. 31, n. ju 2002, p. 216-220, 2002Tradução . . Acesso em: 31 out. 2024.
    • APA

      Xue, F., Tian, X. C., Du, F., Kubota, C., Taneja, M., Dinnyes, A., et al. (2002). Aberrant patterns of X chromosome inactivation in bovine clones. [Letter]. Nature Genetics, 31( ju 2002), 216-220.
    • NLM

      Xue F, Tian XC, Du F, Kubota C, Taneja M, Dinnyes A, Dai Y, Levine H, Pereira L da V, Yang X. Aberrant patterns of X chromosome inactivation in bovine clones. [Letter]. Nature Genetics. 2002 ; 31( ju 2002): 216-220.[citado 2024 out. 31 ]
    • Vancouver

      Xue F, Tian XC, Du F, Kubota C, Taneja M, Dinnyes A, Dai Y, Levine H, Pereira L da V, Yang X. Aberrant patterns of X chromosome inactivation in bovine clones. [Letter]. Nature Genetics. 2002 ; 31( ju 2002): 216-220.[citado 2024 out. 31 ]
  • Source: European Journal of Human Genetics. Unidade: IB

    Subjects: DISTROFIA MUSCULAR, MUTAÇÃO GENÉTICA

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    • ABNT

      PAULA, Flavia de et al. Clinical variability in calpainopathy: what makes the difference?. European Journal of Human Genetics, v. 10, p. 825-832, 2002Tradução . . Disponível em: https://doi.org/10.1038/sj.ejhg.5200888. Acesso em: 31 out. 2024.
    • APA

      Paula, F. de, Vainzof, M., Passos-Bueno, M. R., Pavanello, R. de C. M., Matioli, S. R., Anderson, L. V. B., et al. (2002). Clinical variability in calpainopathy: what makes the difference? European Journal of Human Genetics, 10, 825-832. doi:10.1038/sj.ejhg.5200888
    • NLM

      Paula F de, Vainzof M, Passos-Bueno MR, Pavanello R de CM, Matioli SR, Anderson LVB, Nigro V, Zatz M. Clinical variability in calpainopathy: what makes the difference? [Internet]. European Journal of Human Genetics. 2002 ; 10 825-832.[citado 2024 out. 31 ] Available from: https://doi.org/10.1038/sj.ejhg.5200888
    • Vancouver

      Paula F de, Vainzof M, Passos-Bueno MR, Pavanello R de CM, Matioli SR, Anderson LVB, Nigro V, Zatz M. Clinical variability in calpainopathy: what makes the difference? [Internet]. European Journal of Human Genetics. 2002 ; 10 825-832.[citado 2024 out. 31 ] Available from: https://doi.org/10.1038/sj.ejhg.5200888
  • Source: American Journal of Medical Genetics. Unidade: IB

    Subjects: GENÉTICA MÉDICA, MALFORMAÇÕES, DOENÇAS HEREDITÁRIAS

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    • ABNT

      STARLING, A. et al. Further evidence for a fourth gene causing X-linked pure spastic paraplegia. American Journal of Medical Genetics, v. 111, p. 152-156, 2002Tradução . . Disponível em: https://doi.org/10.1002/ajmg.10551. Acesso em: 31 out. 2024.
    • APA

      Starling, A., Rocco, P., Cambi, F., Hobson, G. M., Passos-Bueno, M. R., & Zatz, M. (2002). Further evidence for a fourth gene causing X-linked pure spastic paraplegia. American Journal of Medical Genetics, 111, 152-156. doi:10.1002/ajmg.10551
    • NLM

      Starling A, Rocco P, Cambi F, Hobson GM, Passos-Bueno MR, Zatz M. Further evidence for a fourth gene causing X-linked pure spastic paraplegia [Internet]. American Journal of Medical Genetics. 2002 ; 111 152-156.[citado 2024 out. 31 ] Available from: https://doi.org/10.1002/ajmg.10551
    • Vancouver

      Starling A, Rocco P, Cambi F, Hobson GM, Passos-Bueno MR, Zatz M. Further evidence for a fourth gene causing X-linked pure spastic paraplegia [Internet]. American Journal of Medical Genetics. 2002 ; 111 152-156.[citado 2024 out. 31 ] Available from: https://doi.org/10.1002/ajmg.10551

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