Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil (2020)
- Authors:
- USP affiliated authors: BERTOLA, DÉBORA ROMEO - IB ; PEREIRA, ALEXANDRE DA COSTA - FM ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; KIM, CHONG AE - FM ; KAWAHIRA, RACHEL SAYURI HONJO - FM ; YAMAMOTO, GUILHERME LOPES - FM ; FREITAS, AMANDA BRASIL DE - FM
- Unidades: IB; FM
- DOI: 10.1002/ajmg.c.31851
- Subjects: MUTAÇÃO GENÉTICA; ANOMALIA CRANIOFACIAL; FENÓTIPOS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: American journal of medical genetics. Part C, Seminars in medical genetics
- ISSN: 1552-4876
- Volume/Número/Paginação/Ano: v. 184, n. 4, p. 896-911, Dec. 2020
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
BERTOLA, Débora R et al. Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. American journal of medical genetics. Part C, Seminars in medical genetics, v. 184, n. 4, p. 896-911, 2020Tradução . . Disponível em: https://doi.org/10.1002/ajmg.c.31851. Acesso em: 30 dez. 2025. -
APA
Bertola, D. R., Castro, M. A. A., Yamamoto, G. L., Honjo, R. S., Ceroni, J. R., Buscarilli, M. M., et al. (2020). Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. American journal of medical genetics. Part C, Seminars in medical genetics, 184( 4), 896-911. doi:10.1002/ajmg.c.31851 -
NLM
Bertola DR, Castro MAA, Yamamoto GL, Honjo RS, Ceroni JR, Buscarilli MM, Freitas AB, Malaquias AC, Pereira AC, Jorge AAL, Passos-Bueno MR, Kim CA. Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil [Internet]. American journal of medical genetics. Part C, Seminars in medical genetics. 2020 ; 184( 4): 896-911.[citado 2025 dez. 30 ] Available from: https://doi.org/10.1002/ajmg.c.31851 -
Vancouver
Bertola DR, Castro MAA, Yamamoto GL, Honjo RS, Ceroni JR, Buscarilli MM, Freitas AB, Malaquias AC, Pereira AC, Jorge AAL, Passos-Bueno MR, Kim CA. Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil [Internet]. American journal of medical genetics. Part C, Seminars in medical genetics. 2020 ; 184( 4): 896-911.[citado 2025 dez. 30 ] Available from: https://doi.org/10.1002/ajmg.c.31851 - Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing
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Informações sobre o DOI: 10.1002/ajmg.c.31851 (Fonte: oaDOI API)
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