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A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening.
Leung, Marco L; McAdoo, Sallie; Watson, Deborah; Stumm, Kallyn; Harr, Margaret; Wang, Xiang; Chung, Christine H; Mafra, Fernanda; Nesbitt, Addie I; Hakonarson, Hakon; Santani, Avni.
Afiliação
  • Leung ML; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio; Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio; Departme
  • McAdoo S; Kidney Cancer Association, Houston, Texas.
  • Watson D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Departments of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
  • Stumm K; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Harr M; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Wang X; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Chung CH; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Mafra F; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Nesbitt AI; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Departments of Pediatrics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
  • Santani A; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania. Electronic address: santani@chop.email.edu.
J Mol Diagn ; 23(1): 91-102, 2021 01.
Article em En | MEDLINE | ID: mdl-33349347
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística / Frequência do Gene / Triagem de Portadores Genéticos Tipo de estudo: Diagnostic_studies / Etiology_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística / Frequência do Gene / Triagem de Portadores Genéticos Tipo de estudo: Diagnostic_studies / Etiology_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article