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1دورية أكاديمية
المؤلفون: Michael M. Segal, Renee George, Peter Waltman, Ayman W. El-Hattab, Kiely N. James, Valentina Stanley, Joseph Gleeson
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
مصطلحات موضوعية: Rare disease diagnosis, Diagnostic decision support system, Artificial intelligence, Genomic analysis, Copy number variation, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-020-01461-1Test; https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Conner Jenkins, Troy Jenkins, Thomas N Person, Peter N Robinson, Alanna Kulchak Rahm, Nephi A Walton, Lynn K Feldman, Joeseph Peterson, Jonathon C Reynolds, Makenzie A Woltz, Marc S Williams, Michael M Segal
المصدر: BMJ Health & Care Informatics, Vol 28, Iss 1 (2021)
مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7
وصف الملف: electronic resource
العلاقة: https://informatics.bmj.com/content/28/1/e100331.fullTest; https://doaj.org/toc/2632-1009Test
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المؤلفون: Mark, Mintz, Victor, Badner, Lynn K, Feldman, Pnina, Mintz, Mana, Saraghi, Jonathan, Diaz, Irina, Mezhebovsky, Irene, Axelrod, Joseph, Gleeson, Chang, Liu, Cathy, Smith, Helen, Chow, David, Zurakowski, Michael M, Segal
المصدر: Psychopharmacol Bull
مصطلحات موضوعية: Premenstrual Syndrome, Double-Blind Method, Psychopharmacology, Humans, Lidocaine, Female, Premenstrual Dysphoric Disorder, Personality, Original Research
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::513a8ba8649915a5f9e5c8bc00ef83ebTest
https://pubmed.ncbi.nlm.nih.gov/35815177Test -
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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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المؤلفون: James Williams, Lynn Feldman, Michael M. Segal
المصدر: Internet Journal of Allied Health Sciences and Practice.
مصطلحات موضوعية: medicine.medical_specialty, business.industry, education, medicine, Medical physics, business, Genetic diagnosis, Health informatics, Clinical decision support system, Bench to bedside
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c5fed85999cb8df6cb9147c0c6c7c21cTest
https://doi.org/10.46743/1540-580x/2021.2033Test -
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المؤلفون: Valentina Stanley, Kiely N. James, Renee D. George, Joseph G. Gleeson, Michael M. Segal, Ayman W. El-Hattab, Peter Waltman
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)مصطلحات موضوعية: Decision support system, medicine.medical_specialty, Artificial intelligence, DNA Copy Number Variations, lcsh:Medicine, Genomic analysis, Rare Diseases, medicine, Humans, Pharmacology (medical), Medical physics, Copy-number variation, Medical diagnosis, Set (psychology), Genetics (clinical), Rare disease diagnosis, business.industry, Copy number variation, Research, lcsh:R, Rank (computer programming), Genomics, General Medicine, Diagnostic decision support system, Human genetics, Phenotype, Metric (unit), Abnormality, business, Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e24dc2329bcc22530f4422b52dead87Test
http://europepmc.org/articles/PMC7374885Test -
7دورية أكاديمية
المؤلفون: Michael M. Segal, Andrea F. Douglas, J Neurophysiol, M. M. Segal, G. F. Rogers, H. L. Needleman, C. A. Chapman, J Child Neurol, C. Yvon, A. Czarnecki, J. Streit, P. Aracri, E. Colombo, M. Mantegazza, P. Scalmani, G. Curia, G. Avanzini, S. Franceschetti, S. Remy, H. Beck
المساهمون: The Pennsylvania State University CiteSeerX Archives
مصطلحات موضوعية: Physiology. Sodium Channel Physiology. Hippocampal Neurons Medicine. Anticonvulsants
وصف الملف: application/pdf
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المؤلفون: Rachel Thompson, Stanley J. F. Laulederkind, Richard H. Scott, Panagiotis I. Sergouniotis, Ada Hamosh, Mark Engelstad, Hanns Lochmüller, Gareth Baynam, Richard Sever, Roger James, Hugh Dawkins, Laureen E. Connell, C. Turner, Andrew D. Devereau, Susan M. Bello, Michael Brudno, Courtney Hum, Cynthia L. Smith, Julie A. McMurry, Michael M. Segal, Damian Smedley, Gholson J. Lyon, Helen V. Firth, Ingo Helbig, Tom Vulliamy, Roland Krause, Patrick F. Chinnery, Franz Schaefer, Ernest Turro, Melissa A. Haendel, Cornelius F. Boerkoel, Peter N. Robinson, Willem H. Ouwehand, Orion J. Buske, Kym M. Boycott, Volker Straub, Bert B.A. de Vries, Daniel Greene, Valentina Cipriani, Erin D. Foster, Annie Olry, Julius O.B. Jacobsen, Laura E. DeMare, Marijcke W. M. Veltman, Nikolas Pontikos, Andreas Zankl, Tudor Groza, Kathleen Freson, Sebastian Köhler, Ana Rath, Nicole Vasilevsky, Julie von Ziegenweidt, Ségolène Aymé, Soichi Ogishima, Johanna A. Jähn, Jing Yu, Tomasz Zemojtel, Stephan Züchner, Christopher J. Mungall
المصدر: Köhler, S, Vasilevsky, N A, Engelstad, M, Foster, E, McMurry, J, Aymé, S, Baynam, G, Bello, S M, Boerkoel, C F, Boycott, K M, Brudno, M, Buske, O J, Chinnery, P F, Cipriani, V, Connell, L E, Dawkins, H J S, DeMare, L E, Devereau, A D, De Vries, B B A, Firth, H V, Freson, K, Greene, D, Hamosh, A, Helbig, I, Hum, C, Jähn, J A, James, R, Krause, R, Laulederkind, S J F, Lochmüller, H, Lyon, G J, Ogishima, S, Olry, A, Ouwehand, W H, Pontikos, N, Rath, A, Schaefer, F, Scott, R H, Segal, M, Sergouniotis, P I, Sever, R, Smith, C L, Straub, V, Thompson, R, Turner, C, Turro, E, Veltman, M W M, Vulliamy, T, Yu, J, Von Ziegenweidt, J, Zankl, A, Züchner, S, Zemojtel, T, Jacobsen, J O B, Groza, T, Smedley, D, Mungall, C J, Haendel, M & Robinson, P N 2017, ' The Human Phenotype Ontology in 2017 ', Nucleic acids research, vol. 45, no. D1, pp. D865-D876 . https://doi.org/10.1093/nar/gkw1039Test
Nucleic Acids Research
Nucleic Acids Research, 45, D1, pp. D865-d876
Köhler, S; Vasilevsky, NA; Engelstad, M; Foster, E; McMurry, J; Aymé, S; et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research, 45(D1), D865-D876. doi: 10.1093/nar/gkw1039. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2w17n1ntTest
Nucleic Acids Research, 45, D865-d876
Nucleic Acids Research. (2016).مصطلحات موضوعية: 0301 basic medicine, Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Genomics, Translational research, Computational biology, Biology, Ontology (information science), Terminology, Translational Research, Biomedical, 03 medical and health sciences, Rare Diseases, Human Phenotype Ontology, Genetics, Database Issue, Humans, Precision Medicine, Multidisciplinary, general & others [D99] [Human health sciences], Genetic Association Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Computational Biology, Biological Ontologies, Precision medicine, Phenotype, 3. Good health, 030104 developmental biology, Algorithms, Software
وصف الملف: application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2949ed30b7148e6f5cc842edf930f06fTest
https://doi.org/10.1093/nar/gkw1039Test -
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المؤلفون: Kayli Rageth, Cynthia L. Smith, Renske Oegema, Julius O.B. Jacobsen, Xingmin Aaron Zhang, Kathleen E. Sullivan, James P. Balhoff, Ayushi Hegde, David Osumi-Sutherland, Gareth Baynam, Rachel Thompson, Matthew T. Wheeler, Cornelius F. Boerkoel, Hélène Dollfus, Nomi L. Harris, Daniel Durkin, Dorothée Leroux, Joshua D. Milner, Melissa A. Haendel, Annie Olry, Dylan Gratian, Nicolas Matentzoglu, Anna Jansen, David Gómez-Andrés, Zafer Yüksel, Hugh Dawkins, Peter N. Robinson, Ruth C. Lovering, Luigi D. Notarangelo, Michael M. Segal, Maria G. Della Rocca, Sergio Rosenzweig, Julie A. McMurry, Catherine Hajek, Francisco Castellanos, Valentina Cipriani, Willie H. Chang, Sergi Beltran, Ahmed Muaz, Leigh C. Carmody, Marc Hanauer, Jenna R.E. Bergerson, Hanns Lochmüller, Halima Lourghi, Tom Conlin, Charlotte Cunningham-Rundles, James R. Priest, Richard Palmer, Shruti Marwaha, Panagiotis I. Sergouniotis, Amy D. Klion, Alexandra F. Freeman, Morgan Similuk, Michael Brudno, Melody C. Carter, Stanley J. F. Laulederkind, Michael A. Gargano, Susan M. Bello, Tudor Groza, Christopher J. Mungall, Damian Smedley, Hannah Blau, Daniel Danis, Jean-Philippe F. Gourdine, Sebastian Köhler, Murat Sincan, Ana Rath, Nicole Vasilevsky, Andrea L. Storm
المساهمون: Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Pediatrics
المصدر: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nucleic Acids Research, 47(D1), D1018. Oxford University Press
Nucleic Acids Research
Köhler, S, Carmody, L, Vasilevsky, N, Jacobsen, J O B, Danis, D, Gourdine, J P, Gargano, M, Harris, N L, Matentzoglu, N, McMurry, J A, Osumi-Sutherland, D, Cipriani, V, Balhoff, J P, Conlin, T, Blau, H, Baynam, G, Palmer, R, Gratian, D, Dawkins, H, Segal, M, Jansen, A C, Muaz, A, Chang, W H, Bergerson, J, Laulederkind, S J F, Yüksel, Z, Beltran, S, Freeman, A F, Sergouniotis, P I, Durkin, D, Storm, A L, Hanauer, M, Brudno, M, Bello, S M, Sincan, M, Rageth, K, Wheeler, M T, Oegema, R, Lourghi, H, Della Rocca, M G, Thompson, R, Castellanos, F, Priest, J, Cunningham-Rundles, C, Hegde, A, Lovering, R C, Hajek, C, Olry, A, Notarangelo, L & Similuk, M 2019, ' Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources ', Nucleic acids research, vol. 47, no. D1, pp. D1018-D1027 . https://doi.org/10.1093/nar/gky1105Test
Nucleic acids research, vol 47, iss D1
Recercat. Dipósit de la Recerca de Catalunya
instnameمصطلحات موضوعية: Vocabulary, media_common.quotation_subject, Knowledge Bases, Interoperability, Biology, Ontology (information science), Congenital Abnormalities, World Wide Web, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Information and Computing Sciences, Human Phenotype Ontology, Databases, Genetic, Genetics, Database Issue, Humans, Genetic Predisposition to Disease, 030304 developmental biology, media_common, 0303 health sciences, Internet, Whole Genome Sequencing, business.industry, Computational Biology, Genetic Variation, Biological Ontologies, Biological Sciences, 3. Good health, Phenotype, Knowledge base, The Internet, business, Environmental Sciences, 030217 neurology & neurosurgery, Developmental Biology, De facto standard
وصف الملف: application/pdf; image/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b257ee3ebfb3ae3e9ecbc4f0bc47edTest
https://ddd.uab.cat/record/223246Test -
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المؤلفون: Janet L. Williams, Steven Mayernick, Michelle Yefko, Lynn Feldman, Marc S. Williams, Steven B. Bleyl, Michael M. Segal, Grant M. Wood, Roger Gildersleeve, Margie C. Sunderland, David Gehrum, Alanna Kulchak Rahm, Peter J. Haug, Gregory J. Moore, Nathan C. Hulse
المصدر: eGEMs, Vol 5, Iss 1 (2017)
eGEMs (Generating Evidence & Methods to improve patient outcomes); Vol 5, No 1 (2017); 23مصطلحات موضوعية: 0303 health sciences, Decision support system, Knowledge management, 020205 medical informatics, business.industry, Computer science, Information sharing, Context (language use), 02 engineering and technology, lcsh:Computer applications to medicine. Medical informatics, Health informatics, 3. Good health, 03 medical and health sciences, Workflow, Resource (project management), Structured interview, 0202 electrical engineering, electronic engineering, information engineering, lcsh:R858-859.7, Medical diagnosis, business, 030304 developmental biology
وصف الملف: application/pdf; application/xml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::814a51a7006c771936a573e3aa2b235aTest
https://pubmed.ncbi.nlm.nih.gov/29930964Test