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Rapid Whole Genome Sequencing for Diagnosis of Single Locus Genetic Diseases in Critically Ill Children.
Owen, Mallory J; Batalov, Sergey; Ellsworth, Katarzyna A; Wright, Meredith; Breeding, Sylvia; Hugh, Kwon; Kingsmore, Stephen F; Ding, Yan.
Afiliação
  • Owen MJ; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, USA.
  • Batalov S; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, USA.
  • Ellsworth KA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, USA.
  • Wright M; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, USA.
  • Breeding S; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, USA.
  • Hugh K; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, USA.
  • Kingsmore SF; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, USA. skingsmore@rchsd.org.
  • Ding Y; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, USA. yding@rchsd.org.
Methods Mol Biol ; 2621: 217-239, 2023.
Article em En | MEDLINE | ID: mdl-37041447
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Estado Terminal Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child / Humans / Infant Idioma: En Revista: Methods Mol Biol Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Estado Terminal Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child / Humans / Infant Idioma: En Revista: Methods Mol Biol Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos