検索結果 - Pranesh Chakraborty

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  1. 1
    Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research

    Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research 著者: Kylie Tingley, Doug Coyle, Ian D. Graham, Pranesh Chakraborty, Kumanan Wilson, Beth K. Potter

    出版事項 2021
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    Artigo
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  2. 2
    Metabolomics of prematurity: analysis of patterns of amino acids, enzymes, and endocrine markers by categories of gestational age

    Metabolomics of prematurity: analysis of patterns of amino acids, enzymes, and endocrine markers by categories of gestational age 著者: Kumanan Wilson, Steven Hawken, Robin Ducharme, Beth K. Potter, Julian Little, Bernard Thébaud, Pranesh Chakraborty

    出版事項 2013
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    Artigo
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  3. 3
    Accurate prediction of gestational age using newborn screening analyte data

    Accurate prediction of gestational age using newborn screening analyte data 著者: Kumanan Wilson, Steven Hawken, Beth K. Potter, Pranesh Chakraborty, Mark Walker, Robin Ducharme, Julian Little

    出版事項 2015
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    Artigo
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  4. 4
    A systematic review of the association between coping strategies and quality of life among caregivers of children with chronic illness and/or disability

    A systematic review of the association between coping strategies and quality of life among caregivers of children with chronic illness and/or disability 著者: Alana Fairfax, Jamie Brehaut, Ian Colman, Lindsey Sikora, Alessia Kazakova, Pranesh Chakraborty, Beth K. Potter

    出版事項 2019
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    Revisão
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  5. 5
    Temporal Signal Pattern Recognition in Mass Spectrometry: A Method for Rapid Identification and Accurate Quantification of Biomarkers for Inborn Errors of Metabolism with Quality Assurance

    Temporal Signal Pattern Recognition in Mass Spectrometry: A Method for Rapid Identification and Accurate Quantification of Biomarkers for Inborn Errors of Metabolism with Quality A... 著者: Alicia DiBattista, Nathan McIntosh, Monica Lamoureux, Osama Y. Al-Dirbashi, Pranesh Chakraborty, Philip Britz‐McKibbin

    出版事項 2017
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    Artigo
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  6. 6
    Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification

    Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification 著者: Alicia DiBattista, Nathan McIntosh, Monica Lamoureux, Osama Y. Al-Dirbashi, Pranesh Chakraborty, Philip Britz‐McKibbin

    出版事項 2018
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    Artigo
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  7. 7
    Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening

    Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening 著者: Christina Blagojevic, Tracy Heung, Mylène Thériault, Aoy Tomita‐Mitchell, Pranesh Chakraborty, Kristin D. Kernohan, Dennis E. Bulman, Anne S. Bassett

    出版事項 2021
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    Artigo
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  8. 8
    Impact of Anesthesia and Surgery for Congenital Heart Disease on the Vitamin D Status of Infants and Children

    Impact of Anesthesia and Surgery for Congenital Heart Disease on the Vitamin D Status of Infants and Children 著者: James Dayre McNally, Kusum Menon, Pranesh Chakraborty, Lawrence Fisher, Kathryn Williams, Osama Y. Al-Dirbashi, Tara Girolamo, Gyaandeo Maharajh, Dermot R. Doherty

    出版事項 2013
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    Artigo
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  9. 9
    Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

    Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease 著者: Hugh J. McMillan, Jeremy Schwartzentruber, Amanda Smith, Suzie Lee, Pranesh Chakraborty, Dennis E. Bulman, Chandree L. Beaulieu, Jacek Majewski, Kym M. Boycott, Michael T. Geraghty

    出版事項 2014
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    Artigo
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  10. 10
    Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

    Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype 著者: Nancy Braverman, Li Chen, Paul Lin, Cassandra Obie, Gary Steel, Pamela K. Douglas, Pranesh Chakraborty, Joe T.R. Clarke, Avihu Boneh, Ann B. Moser, Hugo W. Moser, David Valle

    出版事項 2002
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    Artigo
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  11. 11
    Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood

    Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood 著者: Samuel Lapalme‐Remis, Evan Cole Lewis, Christine De Meulemeester, Pranesh Chakraborty, K. Michael Gibson, Carlos Torres, A. Guberman, Gajja S. Salomons, Cornelis Jakobs, Andre Ali-Ridha, Mahsa Parviz, Phillip L. Pearl

    出版事項 2015
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    Artigo
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  12. 12
    Public views on participating in newborn screening using genome sequencing

    Public views on participating in newborn screening using genome sequencing 著者: Yvonne Bombard, Fiona A. Miller, Robin Z. Hayeems, Carolyn J. Barg, Céline Cressman, June C. Carroll, Brenda J. Wilson, Julian Little, Denise Avard, Michael Painter‐Main, Judith Allanson, Yves Giguère, Pranesh Chakraborty

    出版事項 2014
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    Artigo
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  13. 13
    Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

    Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria 著者: Julien L. Marcadier, Amanda M. Smith, Daniela Pohl, Jeremy Schwartzentruber, Osama Y. Al-Dirbashi, Jacek Majewski, Sacha Ferdinandusse, Ronald J. A. Wanders, Dennis E. Bulman, Kym M. Boycott, Pranesh Chakraborty, Michael T. Geraghty

    出版事項 2013
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    Artigo
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  14. 14
    A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

    A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency 著者: Georgianne L. Arnold, Johan Van Hove, Debra Freedenberg, Arnold W. Strauss, Nicola Longo, Barbara K. Burton, Cheryl Garganta, Can Fıçıcıoğlu, Stephen Cederbaum, Cary O. Harding, Richard G. Boles, Dietrich Matern, Pranesh Chakraborty, Annette Feigenbaum

    出版事項 2009
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    Artigo
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  15. 15
    Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT

    Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy... 著者: Suhrad G. Banugaria, Sean N. Prater, Trusha Patel, Stephanie DeArmey, Christie Milleson, Kathryn L. Berrier, Deeksha Bali, Catherine Rehder, Julian Raiman, Raymond A. Wang, François Labarthe, Joel Charrow, Paul Harmatz, Pranesh Chakraborty, Amy S. Rosenberg, Priya S. Kishnani

    出版事項 2013
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    Artigo
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  16. 16
    DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

    DNM1L-related mitochondrial fission defect presenting as refractory epilepsy 著者: Jason Vanstone, Amanda M Smith, Skye McBride, Thierry Naas, Martin Holčı́k, Ghadi Antoun, Mary‐Ellen Harper, Jean Michaud, Erick Sell, Pranesh Chakraborty, Martine Tétreault, Jacek Majewski, Stephen Baird, Kym M. Boycott, David A. Dyment, Alex MacKenzie, Matthew A. Lines

    出版事項 2015
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    Artigo
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  17. 17
    Health outcomes of young children born to mothers who received 2009 pandemic H1N1 influenza vaccination during pregnancy: retrospective cohort study

    Health outcomes of young children born to mothers who received 2009 pandemic H1N1 influenza vaccination during pregnancy: retrospective cohort study 著者: Laura Walsh, Jessy Donelle, Linda Dodds, Steven Hawken, Kumanan Wilson, Eric I. Benchimol, Pranesh Chakraborty, Astrid Guttmann, Jeffrey C. Kwong, Noni E. MacDonald, Justin R. Ortiz, Ann E. Sprague, Karina A. Top, Mark Walker, Shi Wu Wen, Deshayne B. Fell

    出版事項 2019
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    Artigo
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  18. 18
    Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency

    Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency 著者: Izabella A. Pena, Yann Roussel, Kate Daniel, Kevin Mongeon, Devon L. Johnstone, Hellen Weinschutz Mendes, Marjolein Bosma, Vishal Saxena, Nathalie Lepage, Pranesh Chakraborty, David A. Dyment, Clara van Karnebeek, Nanda M. Verhoeven‐Duif, Tuan V. Bui, Kym M. Boycott, Marc Ekker, Alex MacKenzie

    出版事項 2017
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    Artigo
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  19. 19
    A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

    A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) 著者: Daniel H. Wiseman, Alison May, Stephen Jolles, Philip Connor, Colin Powell, Matthew M. Heeney, Patricia J. Giardina, Robert J. Klaassen, Pranesh Chakraborty, Michael T. Geraghty, Nathalie Major-Cook, Caroline Kannengiesser, Isabelle Thuret, Alexis A. Thompson, Lino Marques, Stephen Hughes, Denise Bonney, Sylvia S. Bottomley, Mark D. Fleming, Robert Wynn

    出版事項 2013
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    Artigo
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  20. 20
    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 著者: 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

    出版事項 2015
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    Artigo
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