المؤلفون: Kadriye O. Lewis, Murat Sincan

المصدر: Online Learning, Vol 13, Iss 2 (2019)

مصطلحات موضوعية: Collaborative Teaching Online, Co-teaching Online, Online Medical Informatics, Course Development, Medical Education, Theory and practice of education, LB5-3640

وصف الملف: electronic resource

Relation: https://olj.onlinelearningconsortium.org/index.php/olj/article/view/1666; https://doaj.org/toc/2472-5749; https://doaj.org/toc/2472-5730

URL الوصول: https://doaj.org/article/04b76cdda1804284827f4c6e828512f7

المؤلفون: Jessica Guzman, Elizabeth Lee, David Draper, Zaheer Valivullah, Guoyun Yu, Murat Sincan, William A. Gahl, David R. Adams

المصدر: Children, Vol 2, Iss 3, Pp 342-357 (2015)

مصطلحات موضوعية: informatics, UDPICS, Undiagnosed Diseases Program, Undiagnosed Diseases Network, rare disease, collaboration software, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2227-9067/2/3/342; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/a87dadb3a1db42a89590fba3ab7a62c3

المؤلفون: Timothy Gall, Elise Valkanas, Christofer Bello, Thomas Markello, Christopher Adams, William P. Bone, Alexander J. Brandt, Jennifer M. Brazill, Lynn Carmichael, Mariska Davids, Joie Davis, Zoraida Diaz-Perez, David Draper, Jeremy Elson, Elise D. Flynn, Rena Godfrey, Catherine Groden, Cheng-Kang Hsieh, Roxanne Fischer, Gretchen A. Golas, Jessica Guzman, Yan Huang, Megan S. Kane, Elizabeth Lee, Chong Li, Amanda E. Links, Valerie Maduro, May Christine V. Malicdan, Fayeza S. Malik, Michele Nehrebecky, Joun Park, Paul Pemberton, Katherine Schaffer, Dimitre Simeonov, Murat Sincan, Damian Smedley, Zaheer Valivullah, Colleen Wahl, Nicole Washington, Lynne A. Wolfe, Karen Xu, Yi Zhu, William A. Gahl, Cynthia J. Tifft, Camillo Toro, David R. Adams, Miao He, Peter N. Robinson, Melissa A. Haendel, R. Grace Zhai, Cornelius F. Boerkoel

المصدر: Frontiers in Medicine, Vol 4 (2017)

مصطلحات موضوعية: rare disease, human phenotype ontology, distributed cognition, diploid alignment, glycome, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fmed.2017.00062/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/af6f4d04ca6b42d0ad0634041b7f5a4c

المؤلفون: Amanda E Links, David Draper, Elizabeth Lee, Jessica Guzman, Zaheer Valivullah, Valerie Maduro, Vlad Lebedev, Maxim Didenko, Garrick Tomlin, Michael Brudno, Marta Girdea, Sergiu Dumitriu, Andrew M Arnold, Bert Coessens, Steven Verhoeven, William Bone, David Adams, Cornelius F Boerkoel, William A Gahl, Murat Sincan

المصدر: Frontiers in Medicine, Vol 3 (2016)

مصطلحات موضوعية: Translational research, precision medicine, Information System, process management system, ontology-based phenotyping, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fmed.2016.00039/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/27a2f0f1be204193ae13693192d4a198

المؤلفون: Murat Sincan

المصدر: Bilgi Dünyası, Vol 4, Iss 1, Pp 64-72 (2003)

مصطلحات موضوعية: Evidence based medicine, Informatics, Medical librarianship, Medical informatics., Social Sciences

وصف الملف: electronic resource

Relation: http://uvt.ulakbim.gov.tr/uvt/index.php?cwid=9&vtadi=TSOS&ano=2686_6d49e0fd93f20f2c93a673c24dfd7d2f; https://doaj.org/toc/1302-3217

URL الوصول: https://doaj.org/article/9e0c912e7ad1479789160f593b7a14cf

المؤلفون: Torosdagli, Neslisah, Liberton, Denise K., Verma, Payal, Lee, Murat Sincan Janice, Pattanaik, Sumanta, Bagci, Ulas

مصطلحات موضوعية: Computer Science - Computer Vision and Pattern Recognition

URL الوصول: http://arxiv.org/abs/1702.07059

المؤلفون: Catherine Hajek, Allison M. Hutchinson, Lauren N. Galbraith, Robert C. Green, Michael F. Murray, Natasha Petry, Charlene L. Preys, Carrie L.B. Zawatsky, Emilie S. Zoltick, Kurt D. Christensen, Jordan Baye, Megan Bell, Kristen Deberg, Benjamin Forred, Colette Free, Joel Van Heukelom, Ashley Hopp, Allison Hutchinson, Ryne Lees, Jennifer Leonhard, Amanda Massmann, Michelle Moore, Amelia Mroch, Dylan Platt, Erin Royer, April Schultz, Murat Sincan, Bethany Tucker, Elizabeth Wheeler, Kurt Christensen, Lauren Galbraith, Jessica LeBlanc, Ryan Walsh, Emilie Zoltick, Robert Green, Charlene Preys, Carrie Zawatsky, Lisa Mullineaux, Leila Jamal

المصدر: Genetics in Medicine. 24:214-224

مصطلحات موضوعية: Medical education, Preparedness, Psychology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5b38f37a06132f88807c510f643e42a3
https://doi.org/10.1016/j.gim.2021.08.008

المؤلفون: Muhammad Hamza Saad Shaukat, Veronica Stys, patryk stys, Catherine Hajek, Phillip Petrasko, Melissa Pham, Beatrice Rynders, Mark Petrasko, Alexander Sjovold, Komaldeep Singh, Kevin Coy, Michael Herman, Murat Sincan, Adam Stys, Marian S Petrasko, Tomasz P Stys

المصدر: Circulation. 144

مصطلحات موضوعية: Physiology (medical), Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0e20cc4a0ede76c613c1ce381c194275
https://doi.org/10.1161/circ.144.suppl_1.10246

المؤلفون: Muhammad Hamza Saad Shaukat, Beatrice Rynders, Mark Petrasko, Catherine Hajek, Phillip Petrasko, Melissa Pham, patryk stys, Alexander Sjovold, Veronica Stys, Komaldeep Singh, Kevin Coy, Michael Lubke, Murat Sincan, Adam Stys, Marian S Petrasko, Tom Stys

المصدر: Circulation. 144

مصطلحات موضوعية: Physiology (medical), Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1bbac0b99da82477dfa94f228710ab3a
https://doi.org/10.1161/circ.144.suppl_1.13252

المؤلفون: Ninad Nadkarni, Filip Oleszak, Andrew Thorp, Catherine Hajek, Murat Sincan, Eric Larson, Michael Lubke, Adam T. Stys, Tomasz P. Stys

المصدر: Journal of the American College of Cardiology. 79:1125

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::db9fa07d278a773a7a621bbaf750d04e
https://doi.org/10.1016/s0735-1097(22)02116-7

المؤلفون: Elise Valkanas, Jessica Guzman, Emma Mosbrook, Murat Sincan, Elizabeth M. J. Lee, Karen Xu, Cynthia J. Tifft, Camillo Toro, Elise D. Flynn, David R. Adams, Amanda E. Links, Cornelius F. Boerkoel, William A. Gahl

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, PharmGKB, precision medicine, 030105 genetics & heredity, Bioinformatics, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Secondary findings, SNP genotypes, Medicine, SNP, Humans, Exome, Genetics (clinical), Incidental Findings, business.industry, personalized medicine, Genomics, Precision medicine, NIH Undiagnosed Diseases Program, United States, SNP genotyping, 030104 developmental biology, National Institutes of Health (U.S.), Pharmacogenetics, Pharmacogenomics, Cohort, business, exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ae0587b7aba7b227a983c84ab99f73c
http://europepmc.org/articles/PMC5133159

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/gky1105
Nucleic acids research, vol 47, iss D1
Recercat. Dipósit de la Recerca de Catalunya
instname

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b257ee3ebfb3ae3e9ecbc4f0bc47ed
https://ddd.uab.cat/record/223246

المؤلفون: Payal Verma, Janice S. Lee, Murat Sincan, Denise K. Liberton, Ulas Bagci, Neslisah Torosdagli

المصدر: IEEE transactions on medical imaging. 38(4)

مصطلحات موضوعية: FOS: Computer and information sciences, Adult, Male, Computer Science - Machine Learning, Geodesic, Adolescent, Computer science, Computer Vision and Pattern Recognition (cs.CV), Computer Science - Computer Vision and Pattern Recognition, ComputingMethodologies_IMAGEPROCESSINGANDCOMPUTERVISION, Machine Learning (stat.ML), Mandible, Regularization (mathematics), Convolutional neural network, Article, Machine Learning (cs.LG), Craniofacial Abnormalities, Young Adult, Deep Learning, Statistics - Machine Learning, Image Interpretation, Computer-Assisted, Humans, Segmentation, Computer vision, Electrical and Electronic Engineering, Child, Radiological and Ultrasound Technology, business.industry, Deep learning, Geodesic map, Image segmentation, Cone-Beam Computed Tomography, Computer Science Applications, Female, Artificial intelligence, Anatomic Landmarks, business, Software, Algorithms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cfc0d242bd9c3bff2273b1940f96469
https://pubmed.ncbi.nlm.nih.gov/30334750

المؤلفون: Melissa A. Haendel, Cornelius F. Boerkoel, Nicole L. Washington, Murat Sincan, William A. Gahl, Christopher J. Mungall, David W. Draper, Amanda E. Links, Heather Trang, Ariane Soldatos, Lynne A. Wolfe, Nicole Vasilevsky, William P. Bone, Elizabeth M. J. Lee, Michael Brudno, Elise D. Flynn, Peter N. Robinson, Catherine Groden, Colleen E. Wahl, Marta Girdea, Orion J. Buske, Damian Smedley, Julius O.B. Jacobsen, Rena A. Godfrey, Michele Nehrebecky, David R. Adams, Elise Valkanas, Sebastian Köhler, Gretchen Golas, Cynthia J. Tifft, Thomas C. Markello, Camilo Toro, Joie Davis

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Patients, phenotype, ved/biology.organism_classification_rank.species, model organisms, 03 medical and health sciences, Mice, Data sequences, Rare Diseases, Databases, Genetic, Exome Sequencing, Medicine, Animals, Humans, Exome, Original Research Article, Model organism, Genetics (clinical), Exome sequencing, Genetic Association Studies, Zebrafish, Genetics, business.industry, ved/biology, Extramural, Computational Biology, Genetic Variation, Phenotype, undiagnosed diseases, United States, 3. Good health, Disease Models, Animal, 030104 developmental biology, semantic comparison, National Institutes of Health (U.S.), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c81ae459c26c21044b1ae811370320e
http://europepmc.org/articles/PMC4916229

المؤلفون: Zaheer M. Valivullah, David W. Draper, Guoyun Yu, Jessica Guzman, William A. Gahl, Murat Sincan, Elizabeth M. J. Lee, David R. Adams

المصدر: Children, Vol 2, Iss 3, Pp 342-357 (2015)
Children

مصطلحات موضوعية: Collaborative software, Knowledge management, business.industry, Complex disease, UDPICS, lcsh:RJ1-570, rare disease, Translational research, lcsh:Pediatrics, Concept Paper, Workspace, Undiagnosed Diseases Network, Undiagnosed Diseases Program, Design rationale, Informatics, Pediatrics, Perinatology and Child Health, Medicine, Custom software, informatics, Medical diagnosis, business, collaboration software

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93ad3072b98b996ee940460bd6dea3fd
http://www.mdpi.com/2227-9067/2/3/342

المؤلفون: Maria S. Oei, Xin Gao, Murat Sincan, Catherine E. Ovitt, James E. Melvin

المصدر: Physiological genomics. 50(4)

مصطلحات موضوعية: 0301 basic medicine, Exocrine gland, Salivary gland, Physiology, RNA-Seq, Biology, Salivary Glands, Cell biology, 03 medical and health sciences, Mice, Sublingual Gland, 030104 developmental biology, medicine.anatomical_structure, stomatognathic system, Major Salivary Gland, Gene expression, Genetics, medicine, Animals, Parotid Gland, Differential expression, Transcriptome, Transcription factor, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50563e6dd340e6defd646f770e71e80d
https://pubmed.ncbi.nlm.nih.gov/29373073

المؤلفون: Payal Verma, Neslisah Torosdagli, Murat Sincan, Ulas Bagci, Sumanta Pattanaik, Denise K. Liberton, Janice Lee

المصدر: ISBI

مصطلحات موضوعية: medicine.diagnostic_test, Computer science, business.industry, Computed tomography, Image segmentation, 030218 nuclear medicine & medical imaging, Random forest, 03 medical and health sciences, Skull, 0302 clinical medicine, medicine.anatomical_structure, Hausdorff distance, Fully automated, 030220 oncology & carcinogenesis, medicine, Computer vision, Segmentation, Artificial intelligence, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5b96da029fdb682b7f257d76c291dc58
https://doi.org/10.1109/isbi.2017.7950734

المؤلفون: Stephen F. Traynelis, Karin Fuentes Fajardo, Lynne A. Wolfe, Conisha Holloman, Barbara K. Burton, Richard W. Hanson, James P. Snyder, Cornelius F. Boerkoel, Todd Holyoak, Ann C.M. Smith, David R. Adams, Hongjie Yuan, Cynthia J. Tifft, Thierry Vilboux, Gretchen Golas, Yan Huang, Douglas S. Kerr, Murat Sincan, Katrina H. Arajs, Parvin Hakimi, George Grahame, Hugo Vega, William A. Gahl, Thomas C. Markello, Gordon Wells

المصدر: Molecular Genetics and Metabolism. 113:161-170

مصطلحات موضوعية: Retinoic acid induced 1, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Molecular Sequence Data, Nonsense mutation, Mutation, Missense, Single-nucleotide polymorphism, Protein structure function, Polymorphism, Single Nucleotide, Receptors, N-Methyl-D-Aspartate, Biochemistry, Article, Endocrinology, Genetics, medicine, Humans, Amino Acid Sequence, Child, Molecular Biology, Genetic Association Studies, Exome sequencing, Base Sequence, biology, Intracellular Signaling Peptides and Proteins, Smith–Magenis syndrome, medicine.disease, 3. Good health, HEK293 Cells, Child, Preschool, Mutation (genetic algorithm), Trans-Activators, biology.protein, Female, Phosphoenolpyruvate Carboxykinase (GTP), GRIN2B, Smith-Magenis Syndrome, Phosphoenolpyruvate Carboxykinase (ATP), Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f26bf76dfee3fb9fe7902f0f12a057c2
https://doi.org/10.1016/j.ymgme.2014.04.001

المؤلفون: Cornelius F. Boerkoel, Catherine Groden, Lauren Lawrence, William A. Gahl, Camilo Toro, Dennis M.D. Landis, Michele Nehrebecky, Grace Park, Colleen E. Wahl, Cynthia J. Tifft, Murat Sincan, David R. Adams, Thomas C. Markello, Rena A. Godfrey, Fred Gill, Gretchen Golas, Ariane Soldatos, Lynne A. Wolfe

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: Adult, Male, Adolescent, Genetic counseling, Genetic Counseling, Article, Cohort Studies, Young Adult, incidental findings, Genetic variation, Humans, Medicine, Exome, Genetic Predisposition to Disease, Young adult, Child, Genetics (clinical), Exome sequencing, Family Health, Family health, Genetics, Genome, Human, business.industry, Genetic Diseases, Inborn, Genetic Variation, familial, Sequence Analysis, DNA, Middle Aged, NIH Undiagnosed Diseases Program, United States, National Institutes of Health (U.S.), Female, Human genome, secondary variants, business, exome sequencing, Metabolism, Inborn Errors, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b371b283d1241014d45dd784c93e261b
https://doi.org/10.1038/gim.2014.29

المؤلفون: Bonnie Gitman, Ilias Alevizos, Andrea Burke, Melissa A. Haendel, William A. Gahl, Mark Engelstad, Rashmi Mishra, Murat Sincan, Payal Verma, Michael T. Collins, Janice S. Lee

المصدر: J Am Dent Assoc

مصطلحات موضوعية: Computer science, Ontology (information science), computer.software_genre, Vocabulary, Clinical decision support system, Article, 03 medical and health sciences, 0302 clinical medicine, Knowledge extraction, Human Phenotype Ontology, Electronic Health Records, Humans, Craniofacial, General Dentistry, Natural Language Processing, SNOMED CT, Narration, business.industry, Unified Medical Language System, 030206 dentistry, Phenotype, Artificial intelligence, business, computer, Evidence-based dentistry, Natural language processing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::613a31913f39188c377775b9e64ecdb1
https://doi.org/10.1016/j.adaj.2019.05.029