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Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.
Yau, Daphne; Laver, Thomas W; Dastamani, Antonia; Senniappan, Senthil; Houghton, Jayne A L; Shaikh, Guftar; Cheetham, Tim; Mushtaq, Talat; Kapoor, Ritika R; Randell, Tabitha; Ellard, Sian; Shah, Pratik; Banerjee, Indraneel; Flanagan, Sarah E.
Afiliação
  • Yau D; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, United Kingdom.
  • Laver TW; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.
  • Dastamani A; Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, United Kingdom.
  • Senniappan S; Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, United Kingdom.
  • Houghton JAL; Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Shaikh G; Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, United Kingdom.
  • Cheetham T; Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom.
  • Mushtaq T; Department of Paediatric Endocrinology, Leeds Children's Hospital, Leeds, United Kingdom.
  • Kapoor RR; Department of Paediatric Endocrinology, King's College London, London, United Kingdom.
  • Randell T; Department of Paediatric Endocrinology, Nottingham Children's Hospital, Nottingham, United Kingdom.
  • Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.
  • Shah P; Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Banerjee I; Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, United Kingdom.
  • Flanagan SE; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, United Kingdom.
PLoS One ; 15(2): e0228417, 2020.
Article em En | MEDLINE | ID: mdl-32027664
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Incidence_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Europa Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Incidence_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Europa Idioma: En Ano de publicação: 2020 Tipo de documento: Article