Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort (2023)
- Authors:
- Autor USP: KIM, CHONG AE - FM
- Unidade: FM
- DOI: 10.1002/ajmg.a.63145
- Subjects: CARDIOPATIAS CONGÊNITAS; DELEÇÃO DE GENES; ESTUDOS DE COORTES
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: American journal of medical genetics
- ISSN: 1552-4825
- Volume/Número/Paginação/Ano: v. 191, n. 5, p. 1273-1281, 2023
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
ZAMARIOLLI, Malu et al. Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort. American journal of medical genetics, v. 191, n. 5, p. 1273-1281, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/53995. Acesso em: 26 fev. 2026. -
APA
Zamariolli, M., Dantas, A. G., Nunes, N., Moyses-Oliveira, M., Sgardioli, I. C., Soares, D. C. de Q., et al. (2023). Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort. American journal of medical genetics, 191( 5), 1273-1281. doi:10.1002/ajmg.a.63145 -
NLM
Zamariolli M, Dantas AG, Nunes N, Moyses-Oliveira M, Sgardioli IC, Soares DC de Q, Gil-da-Silva-Lopes VL, Kim CA, Melaragno MI de SA. Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort [Internet]. American journal of medical genetics. 2023 ; 191( 5): 1273-1281.[citado 2026 fev. 26 ] Available from: https://observatorio.fm.usp.br/handle/OPI/53995 -
Vancouver
Zamariolli M, Dantas AG, Nunes N, Moyses-Oliveira M, Sgardioli IC, Soares DC de Q, Gil-da-Silva-Lopes VL, Kim CA, Melaragno MI de SA. Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort [Internet]. American journal of medical genetics. 2023 ; 191( 5): 1273-1281.[citado 2026 fev. 26 ] Available from: https://observatorio.fm.usp.br/handle/OPI/53995 - NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
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Informações sobre o DOI: 10.1002/ajmg.a.63145 (Fonte: oaDOI API)
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