Search Results - Meredith Gillespie

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    The value of diagnostic testing for parents of children with rare genetic diseases

    The value of diagnostic testing for parents of children with rare genetic diseases by Deborah A. Marshall, Karen V. MacDonald, Sebastian Heidenreich, Taila Hartley, François Bernier, Meredith Gillespie, Brenda McInnes, A. Micheil Innes, Christine M. Armour, Kym M. Boycott

    Published 2019
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    Artigo
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    Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

    Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations by Irit Hochberg, Leigh Demain, Julie Richer, Kyle Thompson, Jill Urquhart, Alessandro Rea, Waheeda Pagarkar, Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Aurora Pujol, Pilar Quijada‐Fraile, Albert Amberger, Andrea Deutschmann, Sandra Demetz, Meredith Gillespie, Inna A. Belyantseva, Hugh J. McMillan, Melanie Barzik, Glenda M. Beaman, Reeya Motha, Kah Ying Ng, James O’Sullivan, Simon G. Williams, Sanjeev S. Bhaskar, Isabella Rachel Lawrence, Emma M. Jenkinson, Jessica L. Zambonin, Zeev Blumenfeld, Sergey Yalonetsky, Stephanie Oerum, Walter Rossmanith, Wyatt W. Yue, Johannes Zschocke, Kevin J. Munro, Brendan J. Battersby, Thomas B. Friedman, Robert W. Taylor, Raymond T. O’Keefe, William G. Newman

    Published 2021
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