Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11 (2025)
- Authors:
- Autor USP: KOK, FERNANDO - FM
- Unidade: FM
- DOI: 10.1016/j.gim.2024.101291
- Subjects: DOENÇAS HEREDITÁRIAS; FENÓTIPOS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Genetics in medicine
- ISSN: 1098-3600
- Volume/Número/Paginação/Ano: v. 27, n. 1, article ID 101291, 8p, 2025
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
NOBREGA, Paulo Ribeiro et al. Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11. Genetics in medicine, v. 27, n. 1, 2025Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/81983. Acesso em: 13 fev. 2026. -
APA
Nobrega, P. R., Paiva, A. R. B., Amorim junior, A. D., Lima, P. L. G. S. B., Cabral, K. S. S., Barcelos, I. P., et al. (2025). Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11. Genetics in medicine, 27( 1). doi:10.1016/j.gim.2024.101291 -
NLM
Nobrega PR, Paiva ARB, Amorim junior AD, Lima PLGSB, Cabral KSS, Barcelos IP, Pessoa ALS, Souza-Lima CFL, Castro MAA, Kok F. Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11 [Internet]. Genetics in medicine. 2025 ; 27( 1):[citado 2026 fev. 13 ] Available from: https://observatorio.fm.usp.br/handle/OPI/81983 -
Vancouver
Nobrega PR, Paiva ARB, Amorim junior AD, Lima PLGSB, Cabral KSS, Barcelos IP, Pessoa ALS, Souza-Lima CFL, Castro MAA, Kok F. Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11 [Internet]. Genetics in medicine. 2025 ; 27( 1):[citado 2026 fev. 13 ] Available from: https://observatorio.fm.usp.br/handle/OPI/81983 - Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
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Informações sobre o DOI: 10.1016/j.gim.2024.101291 (Fonte: oaDOI API)
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