Search Results - Rebecca Sparkes

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  1. 1
    Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype

    Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype by Eline Blommaert, Romain Péanne, Н. А. Черепанова, Daisy Rymen, Frederik Staels, Jaak Jaeken, Valérie Race, Liesbeth Keldermans, Erika Souche, Anniek Corveleyn, Rebecca Sparkes, Kaustuv Bhattacharya, Christine Devalck, Rik Schrijvers, François Foulquier, Reid Gilmore, Gert Matthijs

    Published 2019
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  2. 2
    Expanding the Molecular and Clinical Phenotype of SSR4-CDG

    Expanding the Molecular and Clinical Phenotype of SSR4-CDG by Bobby G. Ng, Kimiyo Raymond, Martin Kircher, Kati J. Buckingham, Tim Wood, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, Jonathan T.S. Wong, Fabíola Paoli Monteiro, Brett H. Graham, Sheryl Jackson, Rebecca Sparkes, Angela E. Scheuerle, Sara Cathey, Fernando Kok, James B. Gibson, Hudson H. Freeze

    Published 2015
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  3. 3
    Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups

    Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups by Sara D. Khangura, Kylie Tingley, Pranesh Chakraborty, Doug Coyle, Jonathan B. Kronick, Anne‐Marie Laberge, Julian Little, Fiona A. Miller, John J. Mitchell, Chitra Prasad, Shabnaz Siddiq, Komudi Siriwardena, Rebecca Sparkes, Kathy N. Speechley, Sylvia Stöckler, Yannis Trakadis, Brenda J. Wilson, Kumanan Wilson, Beth K. Potter

    Published 2015
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  4. 4
    The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

    The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study by Maria D. Karaceper, Pranesh Chakraborty, Doug Coyle, Kumanan Wilson, Jonathan B. Kronick, Steven Hawken, Christine Davies, Marni Brownell, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Anne‐Marie Laberge, Aizeddin A. Mhanni, Fiona A. Miller, John J. Mitchell, Meranda Nakhla, Chitra Prasad, Cheryl R. Greenberg, Rebecca Sparkes, Brenda J. Wilson, Beth K. Potter

    Published 2016
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  5. 5
    Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

    Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements by Cinthya Zepeda‐Mendoza, Jonas Ibn-Salem, Tammy Kammin, David J. Harris, Debra Rita, Karen W. Gripp, Jennifer MacKenzie, Andrea Gropman, Brett H. Graham, Ranad Shaheen, Fowzan S. Alkuraya, Campbell K. Brasington, Edward J. Spence, Diane Masser‐Frye, Lynne M. Bird, Erica Spiegel, Rebecca Sparkes, Zehra Ordulu, Michael E. Talkowski, Miguel A. Andrade‐Navarro, Peter N. Robinson, Cynthia C. Morton

    Published 2017
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  6. 6
    Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

    Experiences of caregivers of children with inherited metabolic diseases: a qualitative study by Shabnaz Siddiq, Brenda J. Wilson, Ian D. Graham, Monica Lamoureux, Sara D. Khangura, Kylie Tingley, Laure Tessier, Pranesh Chakraborty, Doug Coyle, Sarah Dyack, Jane Gillis, Cheryl R. Greenberg, Robin Z. Hayeems, Shailly Jain‐Ghai, Jonathan B. Kronick, Anne‐Marie Laberge, Julian Little, John J. Mitchell, Chitra Prasad, Komudi Siriwardena, Rebecca Sparkes, Kathy N. Speechley, Sylvia Stöckler, Yannis Trakadis, S. Wafa, Jagdeep S. Walia, Kumanan Wilson, Nataliya Yuskiv, Beth K. Potter

    Published 2016
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