Artigo de periodico

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly (2012)

• Authors:
  • Lines, Matthew A.
  • Huang, Lijia
  • Schwartzentruber, Jeremy
  • Douglas, Stuart L.
  • Lynch, Danielle C.
  • Beaulieu, Chandree
  • Guion-Almeida, Maria Leine
  • Zechi-Ceide, Roseli Maria
  • Gener, Blanca
  • Gillessen-Kaesbach, Gabriele
  • Nava, Caroline
  • Baujat, Geneviève
  • Horn, Denise
  • Kini, Usha
  • Caliebe, Almuth
  • Alanay, Yasemin
  • Utine, Gulen Eda
  • Lev, Dorit
  • Kohlhase, Jürgen
  • Grix, Arthur W.
  • Lohmann, Dietmar R.
  • Hehr, Ute
  • Böhm, Detlef
  • FORGE Canada Consortium
  • Majewski, Jacek
  • Bulman, Dennis E.
  • Wieczorek, Dagmar
  • Boycott, Kym M.
• Autor USP: ALMEIDA, MARIA LEINE GUION DE - HRAC
• Unidade: HRAC
• Subjects: DISOSTOSE MANDIBULOFACIAL; ANORMALIDADES CRANIOFACIAIS; TRANSTORNOS GLOBAIS DO DESENVOLVIMENTO INFANTIL
• Language: Inglês
• Imprenta:
  • Publisher place: Chicago
  • Date published: 2012
• Source:
  • Título do periódico: The American Journal of Human Genetics
  • ISSN: 0002-9297
  • Volume/Número/Paginação/Ano: v. 90, n. 2, p. 369-377, Feb. 2012


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How to cite

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• ABNT

  LINES, Matthew A. et al. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. The American Journal of Human Genetics, v. 90, n. 2, p. 369-377, 2012Tradução . . Disponível em: http://ac.els-cdn.com/S0002929712000407/1-s2.0-S0002929712000407-main.pdf?_tid=9e02e0be-273c-11e2-8ec4-00000aab0f26&acdnat=1352115387_9b121eaf2f4d65b8ce34daed5d6fd017. Acesso em: 18 abr. 2024.

• APA

  Lines, M. A., Huang, L., Schwartzentruber, J., Douglas, S. L., Lynch, D. C., Beaulieu, C., et al. (2012). Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. The American Journal of Human Genetics, 90( 2), 369-377. Recuperado de http://ac.els-cdn.com/S0002929712000407/1-s2.0-S0002929712000407-main.pdf?_tid=9e02e0be-273c-11e2-8ec4-00000aab0f26&acdnat=1352115387_9b121eaf2f4d65b8ce34daed5d6fd017

• NLM

  Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D, FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly [Internet]. The American Journal of Human Genetics. 2012 ; 90( 2): 369-377.[citado 2024 abr. 18 ] Available from: http://ac.els-cdn.com/S0002929712000407/1-s2.0-S0002929712000407-main.pdf?_tid=9e02e0be-273c-11e2-8ec4-00000aab0f26&acdnat=1352115387_9b121eaf2f4d65b8ce34daed5d6fd017

• Vancouver

  Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D, FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly [Internet]. The American Journal of Human Genetics. 2012 ; 90( 2): 369-377.[citado 2024 abr. 18 ] Available from: http://ac.els-cdn.com/S0002929712000407/1-s2.0-S0002929712000407-main.pdf?_tid=9e02e0be-273c-11e2-8ec4-00000aab0f26&acdnat=1352115387_9b121eaf2f4d65b8ce34daed5d6fd017

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