Ngā hua rapu kaituhi :: APM

1

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

I whakaputaina 2021

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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2

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

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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3

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

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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4

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

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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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 A... mā Alicia DiBattista, Nathan McIntosh, Monica Lamoureux, Osama Y. Al-Dirbashi, Pranesh Chakraborty, Philip Britz‐McKibbin

I whakaputaina 2017

Whiwhi kuputuhi katoa
Artigo

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6

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

I whakaputaina 2018

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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7

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

I whakaputaina 2021

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

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

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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9

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease mā 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

I whakaputaina 2014

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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10

Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype mā 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

I whakaputaina 2002

Whiwhi kuputuhi katoa
Artigo

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11

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood mā 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

I whakaputaina 2015

Whiwhi kuputuhi katoa
Artigo

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12

Public views on participating in newborn screening using genome sequencing mā 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

I whakaputaina 2014

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria mā 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

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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14

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency mā 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

I whakaputaina 2009

Whiwhi kuputuhi katoa
Artigo

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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... mā 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

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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16

$DNM1L-related mitochondrial fission defect presenting as refractory epilepsy$

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy mā 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

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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17

Health outcomes of young children born to mothers who received 2009 pandemic H1N1 influenza vaccination during pregnancy: retrospective cohort study mā 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

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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18

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency mā 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

I whakaputaina 2017

Whiwhi kuputuhi katoa
Artigo

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19

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) mā 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

I whakaputaina 2013

Whiwhi kuputuhi katoa
Artigo

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20

Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups mā 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

I whakaputaina 2015

Whiwhi kuputuhi katoa
Artigo

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