Further evidence of the importance of RIT1 in Noonan syndrome (2014)
- Authors:
- USP affiliated authors: BERTOLA, DÉBORA ROMEO - IB ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; KIM, CHONG AE - FM ; TAKAHASHI, VANESSA NAOMI VAN OPSTAL - IB ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
- Unidades: IB; FM
- DOI: 10.1002/ajmg.a.36722
- Subjects: FENÓTIPOS; HIPERTROFIA VENTRICULAR ESQUERDA; MUTAÇÃO GENÉTICA; SEQUENCIAMENTO GENÉTICO; ANORMALIDADES CARDIOVASCULARES; INSUFICIÊNCIA DE CRESCIMENTO
- Language: Inglês
- Imprenta:
- Source:
- Título: American Journal of Medical Genetics Part A
- ISSN: 1552-4825
- Volume/Número/Paginação/Ano: online, p. 1-6, Aug. 2014
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
BERTOLA, Débora Romeo et al. Further evidence of the importance of RIT1 in Noonan syndrome. American Journal of Medical Genetics Part A, p. 1-6, 2014Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.36722. Acesso em: 11 fev. 2026. -
APA
Bertola, D. R., Yamamoto, G. L., Almeida, T. F., Buscarilli, M., Jorge, A. A. L., Malaquias, A. C., et al. (2014). Further evidence of the importance of RIT1 in Noonan syndrome. American Journal of Medical Genetics Part A, 1-6. doi:10.1002/ajmg.a.36722 -
NLM
Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AAL, Malaquias AC, Kim CA, Takahashi VNV, Passos-Bueno MR, Pereira AC. Further evidence of the importance of RIT1 in Noonan syndrome [Internet]. American Journal of Medical Genetics Part A. 2014 ; 1-6.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1002/ajmg.a.36722 -
Vancouver
Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AAL, Malaquias AC, Kim CA, Takahashi VNV, Passos-Bueno MR, Pereira AC. Further evidence of the importance of RIT1 in Noonan syndrome [Internet]. American Journal of Medical Genetics Part A. 2014 ; 1-6.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1002/ajmg.a.36722 - The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype
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Informações sobre o DOI: 10.1002/ajmg.a.36722 (Fonte: oaDOI API)
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