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National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years.
Sasaki, Erina; Kostocenko, Marija; Lang, Niamh; Clark, Tara; Rogers, Melissa; Muldowney, Rebecca; Walsh, Olivia; O'Grady, Loretta; Edge, Gillian; Ward, Alana; Linnane, Barry; Borovickova, Ingrid; Barton, David E; Lynch, Sally Ann.
Afiliación
  • Sasaki E; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland. sasakierina06@gmail.com.
  • Kostocenko M; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.
  • Lang N; Royal College of Surgeons in Ireland, 123 St Stephens Green, Dublin 2, Ireland.
  • Clark T; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.
  • Rogers M; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.
  • Muldowney R; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.
  • Walsh O; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.
  • O'Grady L; Newborn Bloodspot Screening Laboratory, Department of Paediatric Laboratory Medicine, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.
  • Edge G; Newborn Bloodspot Screening Laboratory, Department of Paediatric Laboratory Medicine, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.
  • Ward A; Newborn Bloodspot Screening Laboratory, Department of Paediatric Laboratory Medicine, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.
  • Linnane B; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.
  • Borovickova I; Graduate Entry Medical School and Centre for Interventions in Infection, Inflammation and Immunity [4i], University of Limerick, Limerick, Ireland.
  • Barton DE; National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
  • Lynch SA; Newborn Bloodspot Screening Laboratory, Department of Paediatric Laboratory Medicine, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.
Eur J Hum Genet ; 28(12): 1669-1674, 2020 12.
Article en En | MEDLINE | ID: mdl-32483343

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pruebas Genéticas / Tamizaje Neonatal / Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Male / Newborn País/Región como asunto: Europa Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Irlanda

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Pruebas Genéticas / Tamizaje Neonatal / Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Male / Newborn País/Región como asunto: Europa Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Irlanda