Resultados da busca - Linda Goodwin

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  1. 1
    Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

    Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis por Lisa Ewans, André E. Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, Ying Zhu, Alexander P. Drew, Velimir Gayevskiy, George Elakis, Corrina Walsh, Lesley C. Adès, Alison Colley, Carolyn Ellaway, Carey‐Anne Evans, Mary‐Louise Freckmann, Linda Goodwin, Anna Hackett, Benjamin Kamien, Edwin P. Kirk, Michelle Lipke, David Mowat, Elizabeth E. Palmer, Sulekha Rajagopalan, Anne Ronan, Rani Sachdev, William Stevenson, Anne Turner, Meredith Wilson, Lisa Worgan, Marie‐Christine Morel‐Kopp, Michael Field, Michael F. Buckley, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli

    Publicado em 2022
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  2. 2
    A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype por Paulien A. Terhal, Rutger Jan Nievelstein, Eva J. J. Verver, Vedat Topsakal, Paula van Dommelen, Kristien Hoornaert, Martine Le Merrer, Andreas Zankl, Marleen Simon, Sarah Smithson, Carlo Marcelis, Bronwyn Kerr, Jill Clayton‐Smith, Esther Kinning, Sahar Mansour, Frances Elmslie, Linda Goodwin, Annemarie H. van der Hout, Hermine E. Veenstra‐Knol, Johanna C. Herkert, Allan M. Lund, Raoul C. M. Hennekam, André Mégarbané, Melissa Lees, Louise C. Wilson, Alison Male, Jane A. Hurst, Yasemin Alanay, Göran Annerén, Regina C. Betz, Ernie M.H.F. Bongers, Valérie Cormier‐Daire, Anne Dieux, Albert David, Mariet W. Elting, Jenneke van den Ende, Andrew Green, Johanna M. van Hagen, Niels Thomas Hertel, Muriel Holder‐Espinasse, Nicolette S. den Hollander, Tessa Homfray, Hanne Hove, Susan Price, Annick Raas‐Rothschild, Marianne Rohrbach, Barbara Schroeter, Mohnish Suri, Elizabeth M. Thompson, Edward S. Tobias, Annick Toutain, Maaike Vreeburg, Emma Wakeling, Nine Knoers, Paul Coucke, Geert Mortier

    Publicado em 2015
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