المؤلفون: 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

المصدر: BMC Pediatrics, Vol 24, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: MCAD deficiency, Core outcome set, Data quality, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/7eb12ffd1f3f4a9898861100013c4093

المؤلفون: 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

المصدر: Health Expectations, Vol 27, Iss 1, Pp n/a-n/a (2024)

مصطلحات موضوعية: chronic conditions, family‐centred care, paediatrics, quality improvement, scoping review, Medicine (General), R5-920, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1369-6513; https://doaj.org/toc/1369-7625

URL الوصول: https://doaj.org/article/c941dd28a88a4bad811ed0d7dc4b0c30

المؤلفون: 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

المصدر: BMJ Open, Vol 12, Iss 2 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://bmjopen.bmj.com/content/12/2/e055664.full; https://doaj.org/toc/2044-6055

URL الوصول: https://doaj.org/article/369201d5c61346f4959e8868e0a7f579

المؤلفون: 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

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Inherited metabolic diseases, Observational research, Registry science, Data quality, Database, Sustainability, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01358-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4dd97f1f0f9c499290bec8147590f10e

المؤلفون: Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Alvi Rahman, Pranesh Chakraborty, Michael T. Geraghty, Julie Irwin, Laure Tessier, Stuart G. Nicholls, Martin Offringa, Nancy J. Butcher, Ryan Iverson, Tammy J. Clifford, Sylvia Stockler, Brian Hutton, Karen Paik, Jessica Tao, Becky Skidmore, Doug Coyle, Kathleen Duddy, Sarah Dyack, Cheryl R. Greenberg, Shailly Jain Ghai, Natalya Karp, Lawrence Korngut, Jonathan Kronick, Alex MacKenzie, Jennifer MacKenzie, Bruno Maranda, John J. Mitchell, Murray Potter, Chitra Prasad, Andreas Schulze, Rebecca Sparkes, Monica Taljaard, Yannis Trakadis, Jagdeep Walia, Beth K. Potter, Canadian Inherited Metabolic Diseases Research Network

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-15 (2020)

مصطلحات موضوعية: PKU, MCAD deficiency, Core outcome sets, Rare diseases, Patient-oriented outcomes, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/ca64ab0b801a44c5b984cecb91d4a8b8

المؤلفون: Beth K. Potter, Brian Hutton, Tammy J. Clifford, Nicole Pallone, Maureen Smith, Sylvia Stockler, Pranesh Chakraborty, Pauline Barbeau, Chantelle M. Garritty, Michael Pugliese, Alvi Rahman, Becky Skidmore, Laure Tessier, Kylie Tingley, Doug Coyle, Cheryl R. Greenberg, Lawrence Korngut, Alex MacKenzie, John J. Mitchell, Stuart Nicholls, Martin Offringa, Andreas Schulze, Monica Taljaard, In collaboration with the Canadian Inherited Metabolic Diseases Research Network

المصدر: Trials, Vol 18, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: Inherited metabolic diseases, Core outcome set, Registry-based randomized trials, PKU, MCAD deficiency, Delphi, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13063-017-2327-3; https://doaj.org/toc/1745-6215

URL الوصول: https://doaj.org/article/935184723f7a4133894c758541043d09

المؤلفون: Alison H. Howie, Alexandra Wyatt, Michal Inbar-Feigenberg, John J. Mitchell, Maureen Smith, Kim Angel, Jenifer Gentle, Nancy J. Butcher, Martin Offringa, Philippe M. Campeau, Alicia K. Chan, Pranesh Chakraborty, Andrea Chow, Farah El Turk, Cheryl R. Greenberg, Eva Mamak, Aziz Mhanni, Tony Rupar, Rebecca Sparkes, Kednapa Thavorn, Kylie Tingley, Beth K. Potter

المصدر: Molecular Genetics and Metabolism. 138:107154

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::375b33dc36cdd94351ba855652302636
https://doi.org/10.1016/j.ymgme.2022.107154

المؤلفون: 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

المساهمون: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: BMJ open, 12(2):e055664. BMJ Publishing Group
BMJ Open, 12, 2
Paediatrics Publications
BMJ Open, 12

مصطلحات موضوعية: Parents, statistics & research methods, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, quality in health care, Cohort Studies, paediatrics, Metabolic Diseases, Humans, epidemiology, genetics, Health Facilities, Child, Delivery of Health Care

وصف الملف: application/pdf

URL الوصول: 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

المؤلفون: Juan Pablo Appendino, Aizeddin A. Mhanni, Cheryl R. Greenberg, Jessica N. Hartley, Tyler Peikes

المصدر: Genetics and Genomics. :1-7

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Microcephaly, business.industry, Epileptic encephalopathy, CDKL5, Rett syndrome, medicine.disease, Phenotype, Molecular heterogeneity, MECP2, Diagnosis early, medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b1206bcc4249e21c0393662de248b3c3
https://doi.org/10.31487/j.gg.2020.01.02

المؤلفون: J. Robert Thompson, Cheryl R. Greenberg, Andrew Dick, Olga Jilkina, Luvinia Kwan, Tamar S. Rubin, Teresa Zelinski, Marlis L. Schroeder, Paul Van Caeseele

المصدر: International Journal of Neonatal Screening, Vol 4, Iss 2, p 19 (2018)

مصطلحات موضوعية: newborn screening, SCID, TREC, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2409-515X/4/2/19; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/e18714489c3a47e58cce9913e4b04e5e