检索结果 - Amanda Pichini

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  1. 1
    The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review

    The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review 由 Germán Andrés Alarcón Garavito, Thomas Moniz, Noémie Deom, Federico Redin, Amanda Pichini, Cecilia Vindrola‐Padros

    出版 2022
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    Revisão
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  2. 2
    Newborn Screening by Genomic Sequencing: Opportunities and Challenges

    Newborn Screening by Genomic Sequencing: Opportunities and Challenges 由 David Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperavičiūtė, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey, Richard H. Scott

    出版 2022
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    Artigo
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  3. 3
    Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design

    Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design 由 Amanda Pichini, Arzoo Ahmed, Christine Patch, David Bick, Mathilde Leblond, Dalia Kasperavičiūtė, Dasha Deen, Simon A. Wilde, Sofia Garcia Noriega, Christella Matoko, Alice Tuff-Lacey, Chris Wigley, Richard H. Scott

    出版 2022
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    Artigo
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    A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

    A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project 由 Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David J. Bunyan, N. Simon Thomas, Christine Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Nicola Whiffin, Diana Baralle, Jenny Lord

    出版 2022
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    Artigo
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