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Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia.
Ong, Royston; Edwards, Samantha; Howting, Denise; Kamien, Benjamin; Harrop, Karen; Ravenscroft, Gianina; Davis, Mark; Fietz, Michael; Pachter, Nicholas; Beilby, John; Laing, Nigel.
Afiliação
  • Ong R; Centre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.
  • Edwards S; Molecular Medicine Division, Neurogenetic Diseases Laboratory, Harry Perkins Institute of Medical Research, Nedlands, Western Australia, Australia.
  • Howting D; Centre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.
  • Kamien B; Molecular Medicine Division, Neurogenetic Diseases Laboratory, Harry Perkins Institute of Medical Research, Nedlands, Western Australia, Australia.
  • Harrop K; Centre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.
  • Ravenscroft G; Molecular Medicine Division, Neurogenetic Diseases Laboratory, Harry Perkins Institute of Medical Research, Nedlands, Western Australia, Australia.
  • Davis M; Genetic Services of Western Australia, King Edward Memorial Hospital for Women Perth, Subiaco, Western Australia, Australia.
  • Fietz M; Genetic Services of Western Australia, King Edward Memorial Hospital for Women Perth, Subiaco, Western Australia, Australia.
  • Pachter N; Centre for Medical Research, The University of Western Australia, Perth, Western Australia, Australia.
  • Beilby J; Molecular Medicine Division, Neurogenetic Diseases Laboratory, Harry Perkins Institute of Medical Research, Nedlands, Western Australia, Australia.
  • Laing N; PathWest Laboratory Medicine, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
BMJ Open ; 9(6): e028209, 2019 06 16.
Article em En | MEDLINE | ID: mdl-31209093

Texto completo: 1 Eixos temáticos: Pesquisa_clinica Base de dados: MEDLINE Assunto principal: Cuidado Pré-Concepcional / Triagem de Portadores Genéticos Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adult / Female / Humans / Male País como assunto: Oceania Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Eixos temáticos: Pesquisa_clinica Base de dados: MEDLINE Assunto principal: Cuidado Pré-Concepcional / Triagem de Portadores Genéticos Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adult / Female / Humans / Male País como assunto: Oceania Idioma: En Ano de publicação: 2019 Tipo de documento: Article