Filtros : "Rosenberg, Carla" "Gamba, Bruno Faulin" Limpar

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  • Source: Molecular Syndromology. Unidades: HRAC, IB

    Subjects: ANORMALIDADES CONGÊNITAS, MICROCEFALIA, DEFICIÊNCIA MENTAL, DELEÇÃO DE GENES

    Acesso à fonteDOIHow to cite
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    • ABNT

      GAMBA, Bruno Faulin et al. Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability. Molecular Syndromology, v. 7, n. 6, p. 344-348, 2016Tradução . . Disponível em: https://doi.org/10.1159/000450971. Acesso em: 01 ago. 2024.
    • APA

      Gamba, B. F., Zechi-Ceide, R. M., Kokitsu-Nakata, N. M., Vendramini-Pittoli, S., Rosenberg, C., Santos, A. C. A. dos, et al. (2016). Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability. Molecular Syndromology, 7( 6), 344-348. doi:10.1159/000450971
    • NLM

      Gamba BF, Zechi-Ceide RM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Santos ACA dos, Ribeiro-Bicudo LA, Richieri-Costa A. Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability [Internet]. Molecular Syndromology. 2016 ; 7( 6): 344-348.[citado 2024 ago. 01 ] Available from: https://doi.org/10.1159/000450971
    • Vancouver

      Gamba BF, Zechi-Ceide RM, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Santos ACA dos, Ribeiro-Bicudo LA, Richieri-Costa A. Interstitial 1q21.1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability [Internet]. Molecular Syndromology. 2016 ; 7( 6): 344-348.[citado 2024 ago. 01 ] Available from: https://doi.org/10.1159/000450971
  • Source: Molecular Genetics and Genomics. Unidades: HRAC, IB

    Subjects: DOENÇAS GENÉTICAS, CROMOSSOMOS HUMANOS (ANOMALIAS), MALFORMAÇÕES

    Acesso à fonteDOIHow to cite
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    • ABNT

      GAMBA, Bruno Faulin et al. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies. Molecular Genetics and Genomics, n. Ju 2015, p. on-line, 2015Tradução . . Disponível em: https://doi.org/10.1007/s00438-015-1072-0. Acesso em: 01 ago. 2024.
    • APA

      Gamba, B. F., Richieri-Costa, A., Costa, S., Rosenberg, C., & Ribeiro-Bicudo, L. A. (2015). Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies. Molecular Genetics and Genomics, ( Ju 2015), on-line. doi:10.1007/s00438-015-1072-0
    • NLM

      Gamba BF, Richieri-Costa A, Costa S, Rosenberg C, Ribeiro-Bicudo LA. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies [Internet]. Molecular Genetics and Genomics. 2015 ;( Ju 2015): on-line.[citado 2024 ago. 01 ] Available from: https://doi.org/10.1007/s00438-015-1072-0
    • Vancouver

      Gamba BF, Richieri-Costa A, Costa S, Rosenberg C, Ribeiro-Bicudo LA. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies [Internet]. Molecular Genetics and Genomics. 2015 ;( Ju 2015): on-line.[citado 2024 ago. 01 ] Available from: https://doi.org/10.1007/s00438-015-1072-0
  • Source: Molecular syndromology. Unidades: IB, HRAC

    Subjects: FISSURA LÁBIOPALATINA, DELEÇÃO DE GENES, FENÓTIPOS

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    • ABNT

      GAMBA, Bruno Faulin et al. Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14. Molecular syndromology, v. 6, n. 1, p. 39-43, 2015Tradução . . Disponível em: https://doi.org/10.1159/000371404. Acesso em: 01 ago. 2024.
    • APA

      Gamba, B. F., Rosenberg, C., Costa, S., Richieri-Costa, A., & Bicudo, L. A. R. (2015). Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14. Molecular syndromology, 6( 1), 39-43. doi:10.1159/000371404
    • NLM

      Gamba BF, Rosenberg C, Costa S, Richieri-Costa A, Bicudo LAR. Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14 [Internet]. Molecular syndromology. 2015 ; 6( 1): 39-43.[citado 2024 ago. 01 ] Available from: https://doi.org/10.1159/000371404
    • Vancouver

      Gamba BF, Rosenberg C, Costa S, Richieri-Costa A, Bicudo LAR. Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14 [Internet]. Molecular syndromology. 2015 ; 6( 1): 39-43.[citado 2024 ago. 01 ] Available from: https://doi.org/10.1159/000371404
  • Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: HRAC, IB, HRACF

    Subjects: HOLOPROSENCEFALIA, GENÉTICA

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    • ABNT

      GAMBA, Bruno Faulin et al. Array-CGH analysis in brazilians patients with holoprosencephaly. 2013, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2013. Disponível em: https://repositorio.usp.br/directbitstream/e00343db-b47d-468c-94ab-c3ae0045d7fe/2463066.pdf. Acesso em: 01 ago. 2024.
    • APA

      Gamba, B. F., Tragante, V., Bessão, C. O., Rocha, A. L. B., Richieri-Costa, A., Rosenberg, C., & Bicudo, L. A. R. (2013). Array-CGH analysis in brazilians patients with holoprosencephaly. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/e00343db-b47d-468c-94ab-c3ae0045d7fe/2463066.pdf
    • NLM

      Gamba BF, Tragante V, Bessão CO, Rocha ALB, Richieri-Costa A, Rosenberg C, Bicudo LAR. Array-CGH analysis in brazilians patients with holoprosencephaly [Internet]. Anais. 2013 ;[citado 2024 ago. 01 ] Available from: https://repositorio.usp.br/directbitstream/e00343db-b47d-468c-94ab-c3ae0045d7fe/2463066.pdf
    • Vancouver

      Gamba BF, Tragante V, Bessão CO, Rocha ALB, Richieri-Costa A, Rosenberg C, Bicudo LAR. Array-CGH analysis in brazilians patients with holoprosencephaly [Internet]. Anais. 2013 ;[citado 2024 ago. 01 ] Available from: https://repositorio.usp.br/directbitstream/e00343db-b47d-468c-94ab-c3ae0045d7fe/2463066.pdf
  • Source: Anais. Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas. Unidades: IB, HRAC

    Subjects: FISSURA LÁBIOPALATINA, FISSURA LÁBIOPALATINA, GENÉTICA, DELEÇÃO DE GENES

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    • ABNT

      FREITAS, L. T et al. Cleft lip/palate, short stature and developmental delay in a boy with 5,6 MB interstitial deletion involving 10p15.3-p14. 2013, Anais.. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais, 2013. Disponível em: https://repositorio.usp.br/directbitstream/9cc0b529-1250-494a-93ee-8487a457904c/2462069.pdf. Acesso em: 01 ago. 2024.
    • APA

      Freitas, L. T., Gamba, B. F., Rosenberg, C., Richieri-Costa, A., & Bicudo, L. A. R. (2013). Cleft lip/palate, short stature and developmental delay in a boy with 5,6 MB interstitial deletion involving 10p15.3-p14. In Anais. Bauru: Universidade de São Paulo, Hospital de Reabilitação de Anomalias Craniofaciais. Recuperado de https://repositorio.usp.br/directbitstream/9cc0b529-1250-494a-93ee-8487a457904c/2462069.pdf
    • NLM

      Freitas LT, Gamba BF, Rosenberg C, Richieri-Costa A, Bicudo LAR. Cleft lip/palate, short stature and developmental delay in a boy with 5,6 MB interstitial deletion involving 10p15.3-p14 [Internet]. Anais. 2013 ;[citado 2024 ago. 01 ] Available from: https://repositorio.usp.br/directbitstream/9cc0b529-1250-494a-93ee-8487a457904c/2462069.pdf
    • Vancouver

      Freitas LT, Gamba BF, Rosenberg C, Richieri-Costa A, Bicudo LAR. Cleft lip/palate, short stature and developmental delay in a boy with 5,6 MB interstitial deletion involving 10p15.3-p14 [Internet]. Anais. 2013 ;[citado 2024 ago. 01 ] Available from: https://repositorio.usp.br/directbitstream/9cc0b529-1250-494a-93ee-8487a457904c/2462069.pdf

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