תוצאות חיפוש - 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 מאת Kylie Tingley, Doug Coyle, Ian D. Graham, Pranesh Chakraborty, Kumanan Wilson, Beth K. Potter

    יצא לאור 2021
    קבל טקסט מלא קבל טקסט מלא
    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 מאת Kumanan Wilson, Steven Hawken, Robin Ducharme, Beth K. Potter, Julian Little, Bernard Thébaud, Pranesh Chakraborty

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    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 מאת Kumanan Wilson, Steven Hawken, Beth K. Potter, Pranesh Chakraborty, Mark Walker, Robin Ducharme, Julian Little

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    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 מאת Alana Fairfax, Jamie Brehaut, Ian Colman, Lindsey Sikora, Alessia Kazakova, Pranesh Chakraborty, Beth K. Potter

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    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... מאת Alicia DiBattista, Nathan McIntosh, Monica Lamoureux, Osama Y. Al-Dirbashi, Pranesh Chakraborty, Philip Britz‐McKibbin

    יצא לאור 2017
    קבל טקסט מלא
    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 מאת Alicia DiBattista, Nathan McIntosh, Monica Lamoureux, Osama Y. Al-Dirbashi, Pranesh Chakraborty, Philip Britz‐McKibbin

    יצא לאור 2018
    קבל טקסט מלא קבל טקסט מלא
    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 מאת Christina Blagojevic, Tracy Heung, Mylène Thériault, Aoy Tomita‐Mitchell, Pranesh Chakraborty, Kristin D. Kernohan, Dennis E. Bulman, Anne S. Bassett

    יצא לאור 2021
    קבל טקסט מלא קבל טקסט מלא
    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 מאת James Dayre McNally, Kusum Menon, Pranesh Chakraborty, Lawrence Fisher, Kathryn Williams, Osama Y. Al-Dirbashi, Tara Girolamo, Gyaandeo Maharajh, Dermot R. Doherty

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    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 מאת 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

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    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 מאת 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

    יצא לאור 2002
    קבל טקסט מלא
    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 מאת 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

    יצא לאור 2015
    קבל טקסט מלא
    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 מאת 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

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    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 מאת 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

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    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 מאת 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

    יצא לאור 2009
    קבל טקסט מלא
    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... מאת 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

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    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 מאת 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

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    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 מאת 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

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    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 מאת 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

    יצא לאור 2017
    קבל טקסט מלא
    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) מאת 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

    יצא לאור 2013
    קבל טקסט מלא
    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 מאת 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

    יצא לאור 2015
    קבל טקסט מלא
    Artigo
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