المؤلفون: Alison H. Howie, Kylie Tingley, Michal Inbar-Feigenberg, John J. Mitchell, Kim Angel, Jenifer Gentle, Maureen Smith, Martin Offringa, Nancy J. Butcher, Philippe M. Campeau, Pranesh Chakraborty, Alicia Chan, Dean Fergusson, Eva Mamak, Peyton McClelland, Saadet Mercimek-Andrews, Aizeddin Mhanni, Zeinab Moazin, Cheryl Rockman-Greenberg, C. Anthony Rupar, Becky Skidmore, Sylvia Stockler, Kednapa Thavorn, Alexandra Wyatt, Beth K. Potter, INFORM RARE Network

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: Mucopolysaccharidosis, Core outcome set, Outcomes, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/3f5faa2b5e894b579d9b0f0a9ed05831

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: 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

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101379- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424005259; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/88ebbe3c15ba497cb11c3d55ae1cdb0b

المؤلفون: Stephanie Luca, Katharine Fooks, Elise Poole, Amanda Pichini, Joanna Ziff, Katrina Stone, Bowen Xiao, Salma Shickh, David Bick, Pranesh Chakraborty, Wendy Ungar, Robin Hayeems

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101446- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424005922; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/16c2dc06e8eb45e7b9a225246e137a15

المؤلفون: Melanie Lacaria, Matthew Henderson, Ed Yeh, Sara Fernandez, Kelsey Kalbfleisch, Kristin Kernohan, Pranesh Chakraborty

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101525- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442400671X; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/e55a89e6580e4bf580a6611ee30bc638

المؤلفون: Elisa Nigro, Eyal Grunebaum, Binita Kamath, Christoph Licht, Caroline Malcolmson, Aamir Jeewa, Craig Campbell, Hugh McMillan, Pranesh Chakraborty, Mark Tarnopolsky, Hernan Gonorazky

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: spinal muscular atrophy, preterm, newborn screening, gene therapy, Zolgensma, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1230889/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/0ef9cd25f9a44b1b9fee6b56324a1d81

المؤلفون: Steven Hawken, Robin Ducharme, Malia S. Q. Murphy, Brieanne Olibris, A. Brianne Bota, Lindsay A. Wilson, Wei Cheng, Julian Little, Beth K. Potter, Kathryn M. Denize, Monica Lamoureux, Matthew Henderson, Katelyn J. Rittenhouse, Joan T. Price, Humphrey Mwape, Bellington Vwalika, Patrick Musonda, Jesmin Pervin, A. K. Azad Chowdhury, Anisur Rahman, Pranesh Chakraborty, Jeffrey S. A. Stringer, Kumanan Wilson

المصدر: PLoS ONE, Vol 18, Iss 3 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9987787/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/89a231c2041c456d9b2e5027b76fea75

المؤلفون: Alison H. Howie, Kylie Tingley, Michal Inbar-Feigenberg, John J. Mitchell, Nancy J. Butcher, Martin Offringa, Maureen Smith, Kim Angel, Jenifer Gentle, Alexandra Wyatt, Philippe M. Campeau, Alicia Chan, Pranesh Chakraborty, Farah El Turk, Eva Mamak, Aizeddin Mhanni, Becky Skidmore, Rebecca Sparkes, Sylvia Stockler, Beth K. Potter, in collaboration with the INFORM RARE Network

المصدر: Trials, Vol 22, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Outcomes research, Mucopolysaccharidoses, Pediatrics, Rare diseases, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1745-6215

URL الوصول: https://doaj.org/article/57f0bc46d0ab4e048db0a236ad6299b8

المؤلفون: Shelley M. Vanderhout, Maureen Smith, Nicole Pallone, Kylie Tingley, Michael Pugliese, Pranesh Chakraborty, Sylvia Stockler, Martin Offringa, Nancy Butcher, Stuart G. Nicholls, Beth K. Potter

المصدر: Research Involvement and Engagement, Vol 7, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Core outcome sets, Medium-chain acyl-CoA dehydrogenase deficiency, Phenylketonuria, Patient engagement, Consensus, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7529

URL الوصول: https://doaj.org/article/bc5e62045a2c4baeab27767d09c848ac

المؤلفون: Steven Hawken, PhD, Brieanne Olibris, PhD, Robin Ducharme, MSc, A. Brianne Bota, PhD, Jeffrey C. Murray, MD, Beth K. Potter, PhD, Mark Walker, MD, Pranesh Chakraborty, MD, Kumanan Wilson, MD

المصدر: AJOG Global Reports, Vol 2, Iss 4, Pp 100091- (2022)

مصطلحات موضوعية: assisted reproduction, epidemiology, gestational age, in vitro fertilization, prediction modeling, ultrasonography, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666577822000405; https://doaj.org/toc/2666-5778

URL الوصول: https://doaj.org/article/1139a72b35594c9ebc01f69b7deb32d0

المؤلفون: Sara D. Khangura, Beth K. Potter, Christine Davies, Robin Ducharme, A. Brianne Bota, Steven Hawken, Kumanan Wilson, Maria D. Karaceper, Robert J. Klaassen, Julian Little, Ewurabena Simpson, Pranesh Chakraborty

المصدر: BMC Pediatrics, Vol 21, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Sickle cell disease, Sickle cell trait, Newborn screening, Carrier status, Health services utilization, Pediatrics, RJ1-570

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/55c9436047534d04b6dc6dcd133ce96f

المؤلفون: Nicole S. Y. Liang, Abby Watts-Dickens, David Chitayat, Riyana Babul-Hirji, Pranesh Chakraborty, Robin Z. Hayeems

المصدر: Children, Vol 10, Iss 8, p 1362 (2023)

مصطلحات موضوعية: newborn screening, next-generation sequencing, newborn genomic sequencing, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/10/8/1362; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/1d97c2c353cb4dfbb22045bf6bf603d1

المؤلفون: Adil Adatia, Ling Ling, Pranesh Chakraborty, Lauren Brick, Rae Brager

المصدر: Allergy, Asthma & Clinical Immunology, Vol 17, Iss 1, Pp 1-3 (2021)

مصطلحات موضوعية: SCID, Primary immunodeficiency, TRECs, Opiates, Neonatal abstinence syndrome, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1710-1492

URL الوصول: https://doaj.org/article/3eec4076a91a4277a2aafca1549ce650

المؤلفون: Kylie Tingley, Doug Coyle, Ian D. Graham, Pranesh Chakraborty, Kumanan Wilson, Beth K. Potter, In collaboration with the Canadian Inherited Metabolic Diseases Research Network

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Rare diseases, Qualitative research, Research participation, Evidence-based medicine, Therapeutic misconception, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/339498d7ae1941d184fb9259db196a6f

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: 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: Pranesh Chakraborty, Jennifer Milburn, Pheona Mohamed-Rambaran, Bibi Areefa Alladin, Vijay Grey, Andrea Hunter, Matthew Henderson, Laurie Tessier

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

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://bmjopen.bmj.com/content/12/2/e046240.full; https://doaj.org/toc/2044-6055

URL الوصول: https://doaj.org/article/de385c9f3e86420590d39d9a41afc924

المؤلفون: Steven Hawken, Victoria Ward, A Brianne Bota, Monica Lamoureux, Robin Ducharme, Lindsay A Wilson, Nancy Otieno, Stephen Munga, Bryan O Nyawanda, Raphael Atito, David K Stevenson, Pranesh Chakraborty, Gary L Darmstadt, Kumanan Wilson

المصدر: PLOS Global Public Health, Vol 2, Iss 11, p e0000652 (2022)

مصطلحات موضوعية: Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2767-3375

URL الوصول: https://doaj.org/article/06f492d3aee246cf9f387e083cb721d3

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