Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Clara, Van Karnebeek"'
Autor:
Ryan Iverson, Monica Taljaard, Michael T. Geraghty, Michael Pugliese, Kylie Tingley, Doug Coyle, Jonathan B. Kronick, Kumanan Wilson, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Nancy J. Butcher, Alicia K. J. Chan, Sarah Dyack, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain-Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Aizeddin Mhanni, John J. Mitchell, Laura Nagy, Martin Offringa, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Kendra Tapscott, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Anthony Vandersteen, Jagdeep S. Walia, Brenda J. Wilson, Andrea C. Yu, Beth K. Potter, Pranesh Chakraborty
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase
Externí odkaz:
https://doaj.org/article/7eb12ffd1f3f4a9898861100013c4093
Autor:
Andrea J. Chow, Ammar Saad, Zobaida Al‐Baldawi, Ryan Iverson, Becky Skidmore, Isabel Jordan, Nicole Pallone, Maureen Smith, Pranesh Chakraborty, Jamie Brehaut, Eyal Cohen, Sarah Dyack, Jane Gillis, Sharan Goobie, Cheryl R. Greenberg, Robin Hayeems, Brian Hutton, Michal Inbar‐Feigenberg, Shailly Jain‐Ghai, Sara Khangura, Jennifer J. MacKenzie, John J. Mitchell, Zeinab Moazin, Stuart G. Nicholls, Amy Pender, Chitra Prasad, Andreas Schulze, Komudi Siriwardena, Rebecca N. Sparkes, Kathy N. Speechley, Sylvia Stockler, Monica Taljaard, Mari Teitelbaum, Yannis Trakadis, Clara Van Karnebeek, Jagdeep S. Walia, Kumanan Wilson, Beth K. Potter
Publikováno v:
Health Expectations, Vol 27, Iss 1, Pp n/a-n/a (2024)
Abstract Introduction Children with chronic conditions have greater health care needs than the general paediatric population but may not receive care that centres their needs and preferences as identified by their families. Clinicians and researchers
Externí odkaz:
https://doaj.org/article/c941dd28a88a4bad811ed0d7dc4b0c30
Autor:
Andrea Chow, Guylaine D'Amours, Isabel Jordan, Nicole Pallone, Maureen Smith, Pranesh Chakraborty, Zobaida Al-Baldawi, Julie Paradis, Jamie Brehaut, Alicia Chan, Eyal Cohen, Sarah Dyack, Jane Gillis, Sharan Goobie, Ian Graham, Cheryl Rockman-Greenberg, Jeremy Grimshaw, Robin Hayeems, Michal Inbar-Feigenberg, Shailly Jain-Ghai, Sara Khangura, Jennifer MacKenzie, Nathalie Major, John Mitchell, Stuart Nicholls, Amy Pender, Murray Potter, Chitra Prasad, Natalya Karp, Andreas Schulze, Komudi Siriwardena, Kathy Speechley, Sylvia Stockler, Yannis Trakadis, Clara van Karnebeek, Jagdeep Walia, Kumanan Wilson, Brenda Wilson, Andrea Yu, Beth Potter
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101379- (2024)
Externí odkaz:
https://doaj.org/article/88ebbe3c15ba497cb11c3d55ae1cdb0b
Autor:
Alison M. Elliott, Shelin Adam, Christèle du Souich, Anna Lehman, Tanya N. Nelson, Clara van Karnebeek, Emily Alderman, Linlea Armstrong, Gudrun Aubertin, Katherine Blood, Cyrus Boelman, Cornelius Boerkoel, Karla Bretherick, Lindsay Brown, Chieko Chijiwa, Lorne Clarke, Madeline Couse, Susan Creighton, Abby Watts-Dickens, William T. Gibson, Harinder Gill, Maja Tarailo-Graovac, Sara Hamilton, Harindar Heran, Gabriella Horvath, Lijia Huang, Gurdip K. Hulait, David Koehn, Hyun Kyung Lee, Suzanne Lewis, Elena Lopez, Kristal Louie, Karen Niederhoffer, Allison Matthews, Kirsten Meagher, Junran J. Peng, Millan S. Patel, Simone Race, Phillip Richmond, Rosemarie Rupps, Ramona Salvarinova, Kimberly Seath, Kathryn Selby, Michelle Steinraths, Sylvia Stockler, Kaoru Tang, Christine Tyson, Margot van Allen, Wyeth Wasserman, Jill Mwenifumbo, Jan M. Friedman
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100108- (2022)
Summary: Genome-wide sequencing (GWS) is a standard of care for diagnosis of suspected genetic disorders, but the proportion of patients found to have pathogenic or likely pathogenic variants ranges from less than 30% to more than 60% in reported stu
Externí odkaz:
https://doaj.org/article/d29b9915f4b74cfe801ed2dbe124d5cc
Autor:
Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Melanie Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty, on behalf of the Canadian Inherited Metabolic Diseases Research Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims to develop evidence
Externí odkaz:
https://doaj.org/article/4dd97f1f0f9c499290bec8147590f10e
Autor:
Monica Taljaard, Sarah Dyack, Jeremy M Grimshaw, Andreas Schulze, Ian D Graham, Jamie Brehaut, Kumanan Wilson, Pranesh Chakraborty, Nathalie Major, Eyal Cohen, Yannis Trakadis, Clara van Karnebeek, Maureen Smith, Kathy Speechley, Komudi Siriwardena, Robin Z Hayeems, Sharan Goobie, Beth K Potter, Jagdeep S Walia, Jennifer J MacKenzie, Chitra Prasad, Stuart G Nicholls, Ann Jolly, Brenda J Wilson, Lisa A Prosser, Andrea J Chow, Ryan Iverson, Monica Lamoureux, Kylie Tingley, Isabel Jordan, Nicole Pallone, Zobaida Al-Baldawi, Alicia Chan, Lisa Jane Gillis, Cheryl R Greenberg, Shailly Jain-Ghai, Sara Khangura, John J Mitchell, Amy Pender, Murray Potter, Rebecca Sparkes, Sylvia Stockler, Mari Teitelbaum
Publikováno v:
BMJ Open, Vol 12, Iss 2 (2022)
Externí odkaz:
https://doaj.org/article/369201d5c61346f4959e8868e0a7f579
Autor:
Arthur Edridge, Ruth Namazzi, Andrew Tebulo, Anan Mfizi, Martin Deijs, Sylvie Koekkoek, Bob de Wever, Arie van der Ende, Jeanine Umiwana, Menno D. de Jong, Judith Jans, Nanda Verhoeven-Duif, Maarten Titulaer, Clara van Karnebeek, Karl Seydel, Terrie Taylor, Brenda Asiimwe-Kateera, Lia van der Hoek, Jean-Claude Kabayiza, Macpherson Mallewa, Richard Idro, Michael Boele van Hensbroek, Job B.M. van Woensel
Publikováno v:
Journal of pediatrics. Mosby Inc.
Journal of Pediatrics. Mosby Inc.
Journal of Pediatrics. Mosby Inc.
Objectives: To assess whether viral, bacterial, metabolic, and autoimmune diseases are missed by conventional diagnostics among children with severe acute encephalopathy in sub-Saharan Africa. Study design: One hundred thirty-four children (6 months
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73c23daa78693b2f59d389d9070dd9fa
https://pure.eur.nl/en/publications/e8f1b01a-34fc-45ad-98a2-df389c2eef24
https://pure.eur.nl/en/publications/e8f1b01a-34fc-45ad-98a2-df389c2eef24
Autor:
Jan Friedman, Clara van Karnebeek
Publikováno v:
Neurodevelopmental Pediatrics ISBN: 9783031207914
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f351487a2d303a2f0172b9f5cc63402
https://doi.org/10.1007/978-3-031-20792-1_35
https://doi.org/10.1007/978-3-031-20792-1_35
Autor:
Patricia Birch, Larry D. Lynd, Dallas Genereaux, Tanya N. Nelson, Christèle du Souich, Clara Van Karnebeek, Clara D.M. van Karnebeek, Aisha Ghani, Ellen Kim, Anna Lehman, Jan M. Friedman, Alison M. Elliott, Nick Dragojlovic, Jill Mwenifumbo, Shelin Adam
Publikováno v:
Genetics in Medicine. 22:292-300
This study describes the cost trajectory of the standard diagnostic care pathway for children with suspected genetic disorders in British Columbia, Canada. Average annual per-patient costs were estimated using medical records review and a caregiver s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3762ea6f38b61fe7f4b68cfd1ead05c9
https://doi.org/10.1038/s41436-019-0635-6
https://doi.org/10.1038/s41436-019-0635-6
Autor:
Andrea J Chow, Ryan Iverson, Monica Lamoureux, Kylie Tingley, Isabel Jordan, Nicole Pallone, Maureen Smith, Zobaida Al-Baldawi, Pranesh Chakraborty, Jamie Brehaut, Alicia Chan, Eyal Cohen, Sarah Dyack, Lisa Jane Gillis, Sharan Goobie, Ian D Graham, Cheryl R Greenberg, Jeremy M Grimshaw, Robin Z Hayeems, Shailly Jain-Ghai, Ann Jolly, Sara Khangura, Jennifer J MacKenzie, Nathalie Major, John J Mitchell, Stuart G Nicholls, Amy Pender, Murray Potter, Chitra Prasad, Lisa A Prosser, Andreas Schulze, Komudi Siriwardena, Rebecca Sparkes, Kathy Speechley, Sylvia Stockler, Monica Taljaard, Mari Teitelbaum, Yannis Trakadis, Clara van Karnebeek, Jagdeep S Walia, Brenda J Wilson, Kumanan Wilson, Beth K Potter
Publikováno v:
BMJ open, 12(2):e055664. BMJ Publishing Group
BMJ Open, 12, 2
Paediatrics Publications
BMJ Open, 12
BMJ Open, 12, 2
Paediatrics Publications
BMJ Open, 12
IntroductionChildren with inherited metabolic diseases (IMDs) often have complex and intensive healthcare needs and their families face challenges in receiving high-quality, family centred health services. Improvement in care requires complex interve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3840bcc08ea0b24ca213fb094ca8c01
https://pure.amc.nl/en/publications/families-healthcare-experiences-for-children-with-inherited-metabolic-diseases(68dc8b2c-6cf6-490e-85b7-feab5291693c).html
https://pure.amc.nl/en/publications/families-healthcare-experiences-for-children-with-inherited-metabolic-diseases(68dc8b2c-6cf6-490e-85b7-feab5291693c).html