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An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.
Milko, Laura V; O'Daniel, Julianne M; DeCristo, Daniela M; Crowley, Stephanie B; Foreman, Ann Katherine M; Wallace, Kathleen E; Mollison, Lonna F; Strande, Natasha T; Girnary, Zahra S; Boshe, Lacey J; Aylsworth, Arthur S; Gucsavas-Calikoglu, Muge; Frazier, Dianne M; Vora, Neeta L; Roche, Myra I; Powell, Bradford C; Powell, Cynthia M; Berg, Jonathan S.
Afiliação
  • Milko LV; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC.
  • O'Daniel JM; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC.
  • DeCristo DM; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC.
  • Crowley SB; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC.
  • Foreman AKM; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC.
  • Wallace KE; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC.
  • Mollison LF; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC.
  • Strande NT; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC; Department of Pathology and Laboratory Medicine, UNC Chapel Hill, Chapel Hill, NC.
  • Girnary ZS; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC.
  • Boshe LJ; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC.
  • Aylsworth AS; Department of Pediatrics, Division of Genetics and Metabolism, UNC Chapel Hill, Chapel Hill, NC.
  • Gucsavas-Calikoglu M; Department of Pediatrics, Division of Genetics and Metabolism, UNC Chapel Hill, Chapel Hill, NC.
  • Frazier DM; Department of Pediatrics, Division of Genetics and Metabolism, UNC Chapel Hill, Chapel Hill, NC.
  • Vora NL; Department of Obstetrics and Gynecology, UNC Chapel Hill, Chapel Hill, NC.
  • Roche MI; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC; Department of Pediatrics, Division of Genetics and Metabolism, UNC Chapel Hill, Chapel Hill, NC.
  • Powell BC; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC.
  • Powell CM; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC; Department of Pediatrics, Division of Genetics and Metabolism, UNC Chapel Hill, Chapel Hill, NC.
  • Berg JS; Department of Genetics, UNC Chapel Hill, Chapel Hill, NC. Electronic address: jsberg@med.unc.edu.
J Pediatr ; 209: 68-76, 2019 06.
Article em En | MEDLINE | ID: mdl-30851990

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Mapeamento Cromossômico / Triagem Neonatal / Análise de Sequência de DNA / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Evaluation_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn País/Região como assunto: America do norte Idioma: En Revista: J Pediatr Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Nova Caledônia País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Mapeamento Cromossômico / Triagem Neonatal / Análise de Sequência de DNA / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Evaluation_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn País/Região como assunto: America do norte Idioma: En Revista: J Pediatr Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Nova Caledônia País de publicação: Estados Unidos