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1دورية أكاديمية
المؤلفون: Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio
المصدر: Frontiers in Public Health, Vol 11 (2023)
مصطلحات موضوعية: undiagnosed diseases, developing nations, rare diseases, survey, GPD, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fpubh.2023.1248260/fullTest; https://doaj.org/toc/2296-2565Test
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2دورية أكاديمية
المؤلفون: Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada
المصدر: Frontiers in Public Health, Vol 11 (2023)
مصطلحات موضوعية: Undiagnosed Diseases, rare diseases, developing nations, data sharing, survey, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fpubh.2023.1079601/fullTest; https://doaj.org/toc/2296-2565Test
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3دورية أكاديمية
المؤلفون: Lynsey Chediak, Nicola Bedlington, Ayesha Gadson, Alastair Kent, Aiedah Abdul Khalek, Luke Rosen, Malisa Rust, Mohd. Farooq Shaikh, Meng Yoe Tan, Samuel Agyei Wiafe, Gareth Baynam, Charles A. Steward
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-6 (2022)
مصطلحات موضوعية: Sociocultural factors, Diagnosis, Equity, Genomic medicine, Genomic sequencing, Rare disease, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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4دورية أكاديمية
المؤلفون: Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen C. Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco‐de la Paz, Vajira H. W. Dissanayake, Roberto Giugliani, Claudia Gonzaga‐Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landouré, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel Agyei Wiafe, Olaf A. Bodamer, Manuel Posada
مصطلحات موضوعية: Standards and Guidelines for Genetic Variant Interpretation, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Health Economics and Quality of Life Assessment, Economics and Econometrics, Economics, Econometrics and Finance, Social Sciences, Economics of Pharmaceutical Research and Development, Availability of Medicines, Scarcity, Developing country, Medicine, Equity law, Health care, Business, Economic growth, Family medicine, Political science, FOS Political science, Law, FOS Law, Economics, Microeconomics
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5دورية أكاديمية
المؤلفون: Gareth Baynam, Lynsey Chediak, Gemma Bilkey, Dylan Gration, Samuel Agyei Wiafe
المصدر: European Medical Journal, Vol 5, Iss 3, Pp 11-16 (2020)
مصطلحات موضوعية: digital health, phenotyping, precision medicine, precision public health, rare diseases, undiagnosed diseases, Medicine
وصف الملف: electronic resource
العلاقة: https://www.emjreviews.com/innovations/article/digit-all-rare-diseasesTest/; https://doaj.org/toc/2397-6764Test
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6دورية أكاديمية
المؤلفون: Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maud de Dieuleveult, Vinicius de Souza, Bert BA de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander JM Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius OB Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson
مصطلحات موضوعية: Biological sciences, Chemical sciences, Environmental sciences, Information and computing sciences, Uncategorised value
العلاقة: 10779/DRO/DU:24562858.v1; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858Test
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7دورية أكاديمية
المؤلفون: Kwadwo Apeadu Danso, Rosemary Sefakor Akuaku, Florence Naa Adoley Young, Samuel Agyei Wiafe
المصدر: Pan African Medical Journal; Vol. 40 No. 1 (2021) ; 1937-8688
مصطلحات موضوعية: Pfeiffer syndrome, proptosis, broad big toes, macrocephaly, case report
وصف الملف: application/pdf
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8
المؤلفون: Christopher J. Mungall, Matthias Haimel, Fabian Hauck, Marc Hanauer, Nicolas Matentzoglu, Ganna Balagura, Ingo Helbig, Julie A. McMurry, Avi Z. Rosenberg, Amy Brower, Johanna L. Est, Julia Pazmandi, Maximilian Hastreiter, Melissa A. Haendel, Peter D. Galer, Nomi L. Harris, Gerhard Kindle, Michael Hartnett, Daniel Danis, Hugh Kearney, Shiva Ganesan, Yongqun He, Michael A. Gargano, Rebecca L. Peters, Matthias Griese, Roland Krause, Damian Smedley, Shahmir A. Rind, Katrin Knoflach, Tim Jeske, Gareth Baynam, Peter N. Robinson, Michael M. Segal, Leigh C. Carmody, David Lagorce, Monica Munoz-Torres, Christopher G. Chute, Christoph Klein, Zafer Yüksel, Jillian A. Miller, Tomer Talmy, Christina K Rapp, Julie Xian, Tiffany J. Callahan, Samuel A. Wiafe, David Lewis-Smith, Ana Rath, Nicole Vasilevsky, Yarlalu Thomas, Markus G. Seidel, Sebastian Köhler
المصدر: Nucleic Acids Research, 2021, Vol. 49
Nucleic Acids Researchمصطلحات موضوعية: endocrine system, Databases, Factual, Genotype, AcademicSubjects/SCI00010, International Cooperation, Biology, 03 medical and health sciences, 0302 clinical medicine, Human disease, Neonatal Screening, Electronic health record, Terminology as Topic, Human Phenotype Ontology, Genetics, Database Issue, Animals, Humans, Disease, 030304 developmental biology, 0303 health sciences, Internet, Genome, Extramural, fungi, Infant, Newborn, Computational Biology, Biological Ontologies, equipment and supplies, Data science, body regions, Disease Models, Animal, Phenotype, Pharmacogenetics, Clinical validity, International league against epilepsy, 030217 neurology & neurosurgery, Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bf63733a75073d0317ef693d3429b7cTest
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9
المؤلفون: Francis Agyei, Joycelyn Kalitsi Vogelsang, Rita Nkrumah, Marian Britwum, Robert Ketor, Kofi Edu-Ansah, Annabella Osei-Tutu, Esther Ohenewaa, Linda Dede Ahulu, Alexandra Adjei, Paapa Yaw Asante, Irene Botchway, Hannah Aboyinga, Samuel Agyei Wiafe, Ama de-Graft Aikins
المصدر: Journal of health psychology. 26(7)
مصطلحات موضوعية: Medical education, Critical psychology, Professional psychology, Core competency, Ghana, Health psychology, Professional Competence, Practice, Psychological, Humans, Psychology, Cultural Competency, Competence (human resources), Applied Psychology, Problem Solving
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e479ca110a1d479a9ab1efc3015a8c7eTest
https://pubmed.ncbi.nlm.nih.gov/31288572Test