Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes (2014)
- Authors:
- Autor USP: ROSENBERG, CARLA - IB
- Unidade: IB
- DOI: 10.1016/j.ajhg.2014.10.006
- Subjects: GENES; MUTAÇÃO GENÉTICA
- Language: Inglês
- Imprenta:
- Source:
- Título: American Journal of Human Genetics
- ISSN: 1537-6605
- Volume/Número/Paginação/Ano: v. 95, p. 565-578, 2014
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
- Licença: publisher-specific-oa
-
ABNT
CARVALHO, Claudia M.B. et al. Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes. American Journal of Human Genetics, v. 95, p. 565-578, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2014.10.006. Acesso em: 09 jan. 2026. -
APA
Carvalho, C. M. B., Vasanth, S., Shinawi, M., Russell, C., Ramocki, M. B., Brown, C. W., et al. (2014). Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes. American Journal of Human Genetics, 95, 565-578. doi:10.1016/j.ajhg.2014.10.006 -
NLM
Carvalho CMB, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte A-B, Patel GS, Immken LD, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR. Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes [Internet]. American Journal of Human Genetics. 2014 ; 95 565-578.[citado 2026 jan. 09 ] Available from: https://doi.org/10.1016/j.ajhg.2014.10.006 -
Vancouver
Carvalho CMB, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte A-B, Patel GS, Immken LD, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupski JR. Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes [Internet]. American Journal of Human Genetics. 2014 ; 95 565-578.[citado 2026 jan. 09 ] Available from: https://doi.org/10.1016/j.ajhg.2014.10.006 - Number of rare germline CNVs and TP53 mutation types
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Informações sobre o DOI: 10.1016/j.ajhg.2014.10.006 (Fonte: oaDOI API)
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