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  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subjects: ANORMALIDADES CRANIOFACIAIS, RETARDO MENTAL, AGENESIA

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    • ABNT

      GUION-ALMEIDA, Maria Leine e RICHIERI-COSTA, Antonio. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. American Journal of Medical Genetics. Part A, v. 149A, n. 5, p. 1006-1011, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32717. Acesso em: 15 out. 2024.
    • APA

      Guion-Almeida, M. L., & Richieri-Costa, A. (2009). Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients. American Journal of Medical Genetics. Part A, 149A( 5), 1006-1011. doi:10.1002/ajmg.a.32717
    • NLM

      Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 5): 1006-1011.[citado 2024 out. 15 ] Available from: https://doi.org/10.1002/ajmg.a.32717
    • Vancouver

      Guion-Almeida ML, Richieri-Costa A. Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A( 5): 1006-1011.[citado 2024 out. 15 ] Available from: https://doi.org/10.1002/ajmg.a.32717
  • Source: American Journal of Medical Genetics. Part A. Unidades: HRAC, IB

    Assunto: ANOMALIA CRANIOFACIAL

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    • ABNT

      GUION-ALMEIDA, Maria Leine et al. Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?. American Journal of Medical Genetics. Part A, v. 149A, p. 2762-2764, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32816. Acesso em: 15 out. 2024.
    • APA

      Guion-Almeida, M. L., Vendramini-Pittoli, S., Passos-Bueno, M. R., & Zechi-Ceide, R. M. (2009). Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? American Journal of Medical Genetics. Part A, 149A, 2762-2764. doi:10.1002/ajmg.a.32816
    • NLM

      Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM. Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A 2762-2764.[citado 2024 out. 15 ] Available from: https://doi.org/10.1002/ajmg.a.32816
    • Vancouver

      Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM. Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A 2762-2764.[citado 2024 out. 15 ] Available from: https://doi.org/10.1002/ajmg.a.32816
  • Source: European Journal of Human Genetics. Unidades: HRAC, IB

    Subjects: GENÉTICA, MAPEAMENTO CROMOSSÔMICO, DISOSTOSE MANDIBULOFACIAL

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    • ABNT

      MASOTTI, Cibele et al. Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. European Journal of Human Genetics, v. 16, n. 2, p. 145-152, 2008Tradução . . Disponível em: https://doi.org/10.1038/sj.ejhg.5201955. Acesso em: 15 out. 2024.
    • APA

      Masotti, C., Oliveira, K. G., Poerner, F., Splendore, A., Souza, J., Freitas, R. da S., et al. (2008). Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. European Journal of Human Genetics, 16( 2), 145-152. doi:10.1038/sj.ejhg.5201955
    • NLM

      Masotti C, Oliveira KG, Poerner F, Splendore A, Souza J, Freitas R da S, Zechi-Ceide RM, Guion-Almeida ML, Passos-Bueno MR. Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity [Internet]. European Journal of Human Genetics. 2008 ; 16( 2): 145-152.[citado 2024 out. 15 ] Available from: https://doi.org/10.1038/sj.ejhg.5201955
    • Vancouver

      Masotti C, Oliveira KG, Poerner F, Splendore A, Souza J, Freitas R da S, Zechi-Ceide RM, Guion-Almeida ML, Passos-Bueno MR. Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity [Internet]. European Journal of Human Genetics. 2008 ; 16( 2): 145-152.[citado 2024 out. 15 ] Available from: https://doi.org/10.1038/sj.ejhg.5201955
  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subjects: ANORMALIDADES MÚLTIPLAS, HIPERTELORISMO

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    • ABNT

      GUION-ALMEIDA, Maria Leine e CEIDE, Roseli Maria Zechi e RICHIERI-COSTA, Antonio. Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases. American Journal of Medical Genetics. Part A, v. 143A, n. 24, p. 3252-3266, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32090. Acesso em: 15 out. 2024.
    • APA

      Guion-Almeida, M. L., Ceide, R. M. Z., & Richieri-Costa, A. (2007). Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases. American Journal of Medical Genetics. Part A, 143A( 24), 3252-3266. doi:10.1002/ajmg.a.32090
    • NLM

      Guion-Almeida ML, Ceide RMZ, Richieri-Costa A. Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3252-3266.[citado 2024 out. 15 ] Available from: https://doi.org/10.1002/ajmg.a.32090
    • Vancouver

      Guion-Almeida ML, Ceide RMZ, Richieri-Costa A. Cerebro-oculo-nasal syndrome: 13 new Bbrazilian cases [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3252-3266.[citado 2024 out. 15 ] Available from: https://doi.org/10.1002/ajmg.a.32090
  • Source: European Journal of Human Genetics. Unidade: HRAC

    Subjects: SÍNDROME DE GOLDENHAR, PERDA AUDITIVA NEUROSSENSORIAL, OUVIDO

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    • ABNT

      VENDRAMINI, Siulan e RICHIERI-COSTA, Antonio e GUION-ALMEIDA, Maria Leine. Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen brazilian cases and review of the literature. European Journal of Human Genetics, v. 15, n. 4, p. 411-421, 2007Tradução . . Disponível em: https://doi.org/10.1038/sj.ejhg.5201770. Acesso em: 15 out. 2024.
    • APA

      Vendramini, S., Richieri-Costa, A., & Guion-Almeida, M. L. (2007). Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen brazilian cases and review of the literature. European Journal of Human Genetics, 15( 4), 411-421. doi:10.1038/sj.ejhg.5201770
    • NLM

      Vendramini S, Richieri-Costa A, Guion-Almeida ML. Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen brazilian cases and review of the literature [Internet]. European Journal of Human Genetics. 2007 ; 15( 4): 411-421.[citado 2024 out. 15 ] Available from: https://doi.org/10.1038/sj.ejhg.5201770
    • Vancouver

      Vendramini S, Richieri-Costa A, Guion-Almeida ML. Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen brazilian cases and review of the literature [Internet]. European Journal of Human Genetics. 2007 ; 15( 4): 411-421.[citado 2024 out. 15 ] Available from: https://doi.org/10.1038/sj.ejhg.5201770
  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subjects: ANORMALIDADES MÚLTIPLAS, ANORMALIDADES CRANIOFACIAIS, HIPERTELORISMO, LÁBIO FISSURADO

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    • ABNT

      GUION-ALMEIDA, Maria Leine et al. Pai syndrome: report of seven south american patients. American Journal of Medical Genetics. Part A, v. 143A, n. 24, p. 3273-3279, 2007Tradução . . Disponível em: http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0. Acesso em: 15 out. 2024.
    • APA

      Guion-Almeida, M. L., Mellado, C., Beltrán, C., & Richieri-Costa, A. (2007). Pai syndrome: report of seven south american patients. American Journal of Medical Genetics. Part A, 143A( 24), 3273-3279. Recuperado de http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0
    • NLM

      Guion-Almeida ML, Mellado C, Beltrán C, Richieri-Costa A. Pai syndrome: report of seven south american patients [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3273-3279.[citado 2024 out. 15 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0
    • Vancouver

      Guion-Almeida ML, Mellado C, Beltrán C, Richieri-Costa A. Pai syndrome: report of seven south american patients [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3273-3279.[citado 2024 out. 15 ] Available from: http://www3.interscience.wiley.com/cgi-bin/fulltext/116325032/PDFSTART?CRETRY=1&SRETRY=0
  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subjects: ANORMALIDADES MÚLTIPLAS, ANORMALIDADES CRANIOFACIAIS, RETARDO MENTAL

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    • ABNT

      CEIDE, Roseli Maria Zechi et al. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union. American Journal of Medical Genetics. Part A, v. 143A, n. 24, p. 3295-3301, 2007Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32019. Acesso em: 15 out. 2024.
    • APA

      Ceide, R. M. Z., Guion-Almeida, M. L., Zanchetta, S., & Richieri-Costa, A. (2007). Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union. American Journal of Medical Genetics. Part A, 143A( 24), 3295-3301. doi:10.1002/ajmg.a.32019
    • NLM

      Ceide RMZ, Guion-Almeida ML, Zanchetta S, Richieri-Costa A. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3295-3301.[citado 2024 out. 15 ] Available from: https://doi.org/10.1002/ajmg.a.32019
    • Vancouver

      Ceide RMZ, Guion-Almeida ML, Zanchetta S, Richieri-Costa A. Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union [Internet]. American Journal of Medical Genetics. Part A. 2007 ; 143A( 24): 3295-3301.[citado 2024 out. 15 ] Available from: https://doi.org/10.1002/ajmg.a.32019
  • Source: American Journal of Medical Genetics. Part A. Unidade: HRAC

    Subjects: ANORMALIDADES MÚLTIPLAS, LÁBIO FISSURADO, ANORMALIDADES DO SISTEMA NERVOSO, ANORMALIDADES CRANIOFACIAIS, GENÉTICA APLICADA

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    • ABNT

      GUION-ALMEIDA, Maria Leine e RICHIERI-COSTA, Antonio. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?. American Journal of Medical Genetics. Part A, v. No 2006, n. 22, p. 2478-2481, 2006Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31518. Acesso em: 15 out. 2024.
    • APA

      Guion-Almeida, M. L., & Richieri-Costa, A. (2006). Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? American Journal of Medical Genetics. Part A, No 2006( 22), 2478-2481. doi:10.1002/ajmg.a.31518
    • NLM

      Guion-Almeida ML, Richieri-Costa A. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2006 ; No 2006( 22): 2478-2481.[citado 2024 out. 15 ] Available from: https://doi.org/10.1002/ajmg.a.31518
    • Vancouver

      Guion-Almeida ML, Richieri-Costa A. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? [Internet]. American Journal of Medical Genetics. Part A. 2006 ; No 2006( 22): 2478-2481.[citado 2024 out. 15 ] Available from: https://doi.org/10.1002/ajmg.a.31518

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