Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome (2019)
- Authors:
- Autor USP: KIM, CHONG AE - FM
- Unidade: FM
- DOI: 10.1038/s10038-019-0643-z
- Subjects: ANORMALIDADES MÚLTIPLAS; SEQUENCIAMENTO GENÉTICO; GENÔMICA; TRANSCRIÇÃO GÊNICA; REAÇÃO EM CADEIA POR POLIMERASE
- Agências de fomento:
- Takeda Science FoundationTakeda Science Foundation (TSF)
- Ministry of Health, Labour, and WelfareMinistry of Health, Labour and Welfare, Japan
- Japan Society for the Promotion of Science (JSPS) KAKENHIMinistry of Education, Culture, Sports, Science and Technology, Japan (MEXT)Japan Society for the Promotion of ScienceGrants-in-Aid for Scientific Research (KAKENHI) [JP17H01539, JP16H05357, JP16H06254, JP17K16132, JP17K10080, JP17K15630, JP17H06994]
- Financiado pela JSPS
- Japan Agency for Medical Research and Development (AMED)Japan Agency for Medical Research and Development (AMED) [JP18ek0109280, JP18dm0107090, JP18ek0109301, JP18ek0109348, JP18kk0205001]
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of human genetics
- ISSN: 1434-5161
- Volume/Número/Paginação/Ano: v. 64, n. 10, p. 967-978, 2019
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
AOI, Hiromi et al. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome. Journal of human genetics, v. 64, n. 10, p. 967-978, 2019Tradução . . Disponível em: https://doi.org/10.1038/s10038-019-0643-z. Acesso em: 17 out. 2024. -
APA
Aoi, H., Mizuguchi, T., Ceroni, J. R., Kim, V. E. H., Furquim, I., Honjo, R. S., et al. (2019). Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome. Journal of human genetics, 64( 10), 967-978. doi:10.1038/s10038-019-0643-z -
NLM
Aoi H, Mizuguchi T, Ceroni JR, Kim VEH, Furquim I, Honjo RS, Iwaki T, Suzuki T, Sekiguchi F, Kim CA. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome [Internet]. Journal of human genetics. 2019 ; 64( 10): 967-978.[citado 2024 out. 17 ] Available from: https://doi.org/10.1038/s10038-019-0643-z -
Vancouver
Aoi H, Mizuguchi T, Ceroni JR, Kim VEH, Furquim I, Honjo RS, Iwaki T, Suzuki T, Sekiguchi F, Kim CA. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome [Internet]. Journal of human genetics. 2019 ; 64( 10): 967-978.[citado 2024 out. 17 ] Available from: https://doi.org/10.1038/s10038-019-0643-z - Contribuicao para o estudo da osteogenese imperfeita: aspectos genetico-clinicos de 25 casos
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Informações sobre o DOI: 10.1038/s10038-019-0643-z (Fonte: oaDOI API)
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