Filtros : "Carakushansky, Gerson" "Passos-Bueno, Maria Rita" "Estados Unidos" Removidos: "3Department of Medicine and Human Genetics, University of Chicago, Chicago, IL" "MACHADO, MARIA APARECIDA DE ANDRADE MOREIRA" "MIGLINO, MARIA ANGÉLICA" "Saraiva" Limpar

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  • Source: Human Mutation. Unidade: IB

    Assunto: GENÉTICA MÉDICA

    Acesso à fonteDOIHow to cite
    A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
    • ABNT

      SPLENDORE, Alessandra et al. High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes. Human Mutation, v. 16, p. 315-322, 2000Tradução . . Disponível em: https://doi.org/10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h. Acesso em: 03 jul. 2024.
    • APA

      Splendore, A., Silva, E. O. da, Alonso, L. G., Richieri-Costa, A., Alonso, N., Rosa, A., et al. (2000). High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes. Human Mutation, 16, 315-322. doi:10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h
    • NLM

      Splendore A, Silva EO da, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushansky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes [Internet]. Human Mutation. 2000 ; 16 315-322.[citado 2024 jul. 03 ] Available from: https://doi.org/10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h
    • Vancouver

      Splendore A, Silva EO da, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushansky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes [Internet]. Human Mutation. 2000 ; 16 315-322.[citado 2024 jul. 03 ] Available from: https://doi.org/10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h
  • Source: American Journal of Human Genetics. Conference titles: American Society of Human Genetics. Unidades: IB, HRAC

    Assunto: GENÉTICA MÉDICA

    PrivadoHow to cite
    A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
    • ABNT

      SPLENDORE, A et al. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome. American Journal of Human Genetics. San Francisco: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF. Acesso em: 03 jul. 2024. , 1999
    • APA

      Splendore, A., Silva, E. O., Alonso, L. G., Brunoni, D., Alonso, N., Richieri-Costa, A., et al. (1999). Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome. American Journal of Human Genetics. San Francisco: Instituto de Biociências, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF
    • NLM

      Splendore A, Silva EO, Alonso LG, Brunoni D, Alonso N, Richieri-Costa A, Cavalcanti D, Carakushansky G, Zatz M, Passos-Bueno MR. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome [Internet]. American Journal of Human Genetics. 1999 ; 65( 4):[citado 2024 jul. 03 ] Available from: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF
    • Vancouver

      Splendore A, Silva EO, Alonso LG, Brunoni D, Alonso N, Richieri-Costa A, Cavalcanti D, Carakushansky G, Zatz M, Passos-Bueno MR. Characterization of TCOF1 mutations in Brazilian patients affected with treacher Collins syndrome [Internet]. American Journal of Human Genetics. 1999 ; 65( 4):[citado 2024 jul. 03 ] Available from: https://repositorio.usp.br/directbitstream/4c7bde96-0256-41a2-93c4-556cc4d197f5/1052265.PDF

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