Hasil Pencarian - Richard H. Scott

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  1. 1
    MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia

    MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia oleh Manuela Germeshausen, Phil Ancliff, Jaime Estrada, Markus Metzler, Eva Ponstingl, Horst Rütschle, Dirk Schwabe, Richard H. Scott, Sule Unal, Angela Wawer, Bernward Zeller, Matthias Ballmaier

    Diterbitkan 2018-03-01
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  2. 2
    Newborn Screening by Genomic Sequencing: Opportunities and Challenges

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

    Diterbitkan 2022-07-01
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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 oleh Amanda Pichini, Arzoo Ahmed, Christine Patch, Christine Patch, David Bick, Mathilde Leblond, Dalia Kasperaviciute, Dasha Deen, Simon Wilde, Sofia Garcia Noriega, Christella Matoko, Alice Tuff-Lacey, Chris Wigley, Richard H. Scott

    Diterbitkan 2022-05-01
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  4. 4
    Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

    Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation oleh Jennifer F. Gardner, Thomas D. Cushion, Georgios Niotakis, Heather E. Olson, P. Ellen Grant, Richard H. Scott, Neil Stoodley, Julie S. Cohen, Sakkubai Naidu, Tania Attie-Bitach, Maryse Bonnières, Lucile Boutaud, Férechté Encha-Razavi, Sheila M. Palmer-Smith, Hood Mugalaasi, Jonathan G. L. Mullins, Daniela T. Pilz, Andrew E. Fry

    Diterbitkan 2018-08-01
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  5. 5
    Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

    Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene... oleh Eric Olinger, Ian J. Wilson, Sarah Orr, Miguel Barroso-Gil, Ruxandra Neatu, Denize Atan, John A. Sayer, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood

    Diterbitkan 2024-01-01
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