Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases (2018)
- Authors:
- USP affiliated authors: KREPISCHI, ANA CRISTINA VICTORINO - IB ; COSTA, SILVIA SOUZA DA - IB ; MORGANTE, ANGELA MARIA VIANNA - IB ; BERTOLA, DÉBORA ROMEO - IB ; OTTO, PAULO ALBERTO - IB ; ROSENBERG, CARLA - IB
- Unidade: IB
- DOI: 10.2147/TACG.S165799
- Subjects: GENOMAS; SEQUENCIAMENTO GENÉTICO; DOENÇAS GENÉTICAS; DEFICIÊNCIA MENTAL; EXONS; DIAGNÓSTICO
- Keywords: Exome; Intellectual disability; Next-generation sequencing
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Macclesfield
- Date published: 2018
- Source:
- Título do periódico: The Application of Clinical Genetics
- ISSN: 1178-704X
- Volume/Número/Paginação/Ano: v. 11, p. 93-98, 2018
- Este periódico é de acesso aberto
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: gold
- Licença: cc-by-nc
-
ABNT
CARNEIRO, Thaise NR et al. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. The Application of Clinical Genetics, v. 11, p. 93-98, 2018Tradução . . Disponível em: https://doi.org/10.2147/TACG.S165799. Acesso em: 31 maio 2024. -
APA
Carneiro, T. N. R., Krepischi, A. C. V., Costa, S. S., Silva, I. T. da, Vianna-Morgante, A. M., Valieris, R., et al. (2018). Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. The Application of Clinical Genetics, 11, 93-98. doi:10.2147/TACG.S165799 -
NLM
Carneiro TNR, Krepischi ACV, Costa SS, Silva IT da, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, Rosenberg C. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases [Internet]. The Application of Clinical Genetics. 2018 ; 11 93-98.[citado 2024 maio 31 ] Available from: https://doi.org/10.2147/TACG.S165799 -
Vancouver
Carneiro TNR, Krepischi ACV, Costa SS, Silva IT da, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, Rosenberg C. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases [Internet]. The Application of Clinical Genetics. 2018 ; 11 93-98.[citado 2024 maio 31 ] Available from: https://doi.org/10.2147/TACG.S165799 - KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability
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Informações sobre o DOI: 10.2147/TACG.S165799 (Fonte: oaDOI API)
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