المؤلفون: Jemima Barrowman, Corinne Hamblet, Megan S Kane, Susan Michaelis

المصدر: PLoS ONE, Vol 7, Iss 2, p e32120 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3280227?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/89506b6093af4f8d9d11611e3a8f71dcTest

المؤلفون: Megan S. Kane

المصدر: The Programming Historian, Vol 12 (2023)

مصطلحات موضوعية: History (General), D1-2009, Computer software, QA76.75-76.765

وصف الملف: electronic resource

العلاقة: https://programminghistorian.org/en/lessons/corpus-analysis-with-spacyTest; https://doaj.org/toc/2397-2068Test

الوصول الحر: https://doaj.org/article/13b6d729d69045c5a305f5df5b7f7176Test

المؤلفون: Nicole A Vasilevsky, Nicolas A Matentzoglu, Sabrina Toro, Joseph E Flack, Harshad Hegde, Deepak R Unni, Gioconda F Alyea, Joanna S Amberger, Larry Babb, James P Balhoff, Taylor I Bingaman, Gully A Burns, Orion J Buske, Tiffany J Callahan, Leigh C Carmody, Paula Carrio Cordo, Lauren E Chan, George S Chang, Sean L Christiaens, Michel Dumontier, Laura E Failla, May J Flowers, H. Alpha Garrett, Jennifer L Goldstein, Dylan Gration, Tudor Groza, Marc Hanauer, Nomi L Harris, Jason A Hilton, Daniel S Himmelstein, Charles Tapley Hoyt, Megan S Kane, Sebastian Köhler, David Lagorce, Abbe Lai, Martin Larralde, Antonia Lock, Irene López Santiago, Donna R Maglott, Adriana J Malheiro, Birgit H M Meldal, Monica C Munoz-Torres, Tristan H Nelson, Frank W Nicholas, David Ochoa, Daniel P Olson, Tudor I Oprea, David Osumi-Sutherland, Helen Parkinson, Zoë May Pendlington, Ana Rath, Heidi L Rehm, Lyubov Remennik, Erin R Riggs, Paola Roncaglia, Justyne E Ross, Marion F Shadbolt, Kent A Shefchek, Morgan N Similuk, Nicholas Sioutos, Damian Smedley, Rachel Sparks, Ray Stefancsik, Ralf Stephan, Andrea L Storm, Doron Stupp, Gregory S Stupp, Jagadish Chandrabose Sundaramurthi, Imke Tammen, Darin Tay, Courtney L Thaxton, Eloise Valasek, Jordi Valls-Margarit, Alex H Wagner, Danielle Welter, Patricia L Whetzel, Lori L Whiteman, Valerie Wood, Colleen H Xu, Andreas Zankl, Xingmin Aaron Zhang, Christopher G Chute, Peter N Robinson, Christopher J Mungall, Ada Hamosh, Melissa A Haendel

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eb95e9f275c4c5ac6590aa22f6896dbbTest
https://doi.org/10.1101/2022.04.13.22273750Test

المؤلفون: Mohd A. Raihan, Mariska Davids, May Christine V. Malicdan, William A. Gahl, Miao He, David H. Adams, Lynne A. Wolfe, Megan S. Kane, Camilo Toro, Xueli Li, Cynthia J. Tifft, Cornelius F. Boerkoel

المصدر: Translational Research. 206:5-17

مصطلحات موضوعية: 0301 basic medicine, Protein glycosylation, Glycan, Glycosylation, Disease, Bioinformatics, Glycomics, 03 medical and health sciences, chemistry.chemical_compound, Rare Diseases, 0302 clinical medicine, Physiology (medical), Humans, Medicine, Exome sequencing, biology, business.industry, Biochemistry (medical), Public Health, Environmental and Occupational Health, General Medicine, Glycome, Phenotype, carbohydrates (lipids), 030104 developmental biology, chemistry, 030220 oncology & carcinogenesis, biology.protein, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aa1d1230516f73e7ff13d85054d976aTest
https://doi.org/10.1016/j.trsl.2018.10.005Test

المؤلفون: Thierry Vilboux, Natalie Hauser, John E. Niederhuber, John F. Deeken, Megan S. Kane, Callie J. Diamonstein

المصدر: Genes and Diseases, Vol 6, Iss 1, Pp 56-67 (2019)
Genes & Diseases

مصطلحات موضوعية: lcsh:QH426-470, Endosome, Neurological malformation, Biology, Endocytosis, Biochemistry, Article, 03 medical and health sciences, 0302 clinical medicine, KIAA1109, Cilia, Cytoskeleton, Molecular Biology, Genetics (clinical), Loss function, 030304 developmental biology, 0303 health sciences, lcsh:R5-920, Cilium, Cell Biology, Actin cytoskeleton, Phenotype, Cell biology, lcsh:Genetics, Vesicular trafficking, lcsh:Medicine (General), 030217 neurology & neurosurgery, Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::896f333468868053007f17f0fa6c18e4Test
http://www.sciencedirect.com/science/article/pii/S2352304218301090Test

المؤلفون: Megan S. Kane

المصدر: SIGDOC

مصطلحات موضوعية: Value (ethics), Multimedia, Computer science, 05 social sciences, 050301 education, 02 engineering and technology, computer.software_genre, Pipeline (software), Training (civil), 020204 information systems, ComputingMilieux_COMPUTERSANDEDUCATION, 0202 electrical engineering, electronic engineering, information engineering, Rhetorical question, Computer-aided, 0503 education, computer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a405288b5cb699b3154c6a77b8dfeaa8Test
https://doi.org/10.1145/3380851.3416765Test

المؤلفون: Brandi L. Kattman, Malheiro Aj, Marilu A. Hoeppner, Megan S. Kane, Donna Maglott

المصدر: Molecular Genetics and Metabolism. 132:S341-S342

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, SAFER, Genetics, medicine, Medical genetics, Intensive care medicine, business, Molecular Biology, Biochemistry, Pharmacogenetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a5a1803370b4a5b0b220d25930bbfcb4Test
https://doi.org/10.1016/s1096-7192Test(21)00604-1

المؤلفون: Amelia Diplock, Wendy E. Smith, John E. Niederhuber, Jia Zhao, Thierry Vilboux, John F. Deeken, Natalie Hauser, Megan S. Kane, Darius Ebrahimi-Fakhari, Julie Muskett, Siddharth Srivastava

المصدر: Neuropediatrics. 50(4)

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Vesicular Transport Proteins, Autophagy-Related Proteins, 030105 genetics & heredity, Compound heterozygosity, Severity of Illness Index, Cataract, Corpus Callosum, 03 medical and health sciences, 0302 clinical medicine, Cataracts, medicine, Humans, Vici syndrome, Global developmental delay, Agenesis of the corpus callosum, Hypopigmentation, business.industry, General Medicine, medicine.disease, Magnetic Resonance Imaging, Hypotonia, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Neurology (clinical), medicine.symptom, Agenesis of Corpus Callosum, business, 030217 neurology & neurosurgery, Congenital disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d11597b618de4598897d11463fe42d5Test
https://pubmed.ncbi.nlm.nih.gov/31226715Test

المؤلفون: Barbara L. Voss, Jane I. Seiter, Megan S. Kane, Michael J. Worthington

المصدر: International Journal of Historical Archaeology. 19:664-685

مصطلحات موضوعية: History, Archeology, Carving, Chinatown, Geography, Planning and Development, Excavation, Archaeology, Arson, Geography, Arts and Humanities (miscellaneous), Thriving, Assemblage (archaeology), Recreation, Built environment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8daef45a72ea7514987c34aba23cd535Test
https://doi.org/10.1007/s10761-015-0303-8Test

المؤلفون: Thomas C. Markello, Stephen G. Kahler, Noelle R. Danylchuk, Gretchen Golas, Irina Maric, Lynne A. Wolfe, Adolfo Garnica, Maya Lodish, Wadih M. Zein, David R. Adams, Constantine A. Stratakis, Eva H. Baker, G. Bradley Schaefer, May Christine V. Malicdan, Sergio D. Rosenzweig, William A. Gahl, Andrea L. Gropman, Christina Lam, Megan S. Kane, Carlos Ferreira, Cornelius F. Boerkoel, Donna M. Krasnewich, Marjan Huizing, Mariska Davids

المصدر: Molecular genetics and metabolism, vol 115, iss 2-3

مصطلحات موضوعية: Heterozygote, Glycosylphosphatidylinositols, Intellectual and Developmental Disabilities (IDD), Developmental Disabilities, Endocrinology, Diabetes and Metabolism, Clinical Sciences, Mutation, Missense, Glycosylphosphatidylinositol anchor, Biology, Compound heterozygosity, Biochemistry, Article, Frameshift mutation, Congenital, Endocrinology, Clinical Research, Genetics, medicine, 2.1 Biological and endogenous factors, Humans, Missense mutation, Exome, Flow cytometry, Global developmental delay, Aetiology, Child, Frameshift Mutation, Molecular Biology, Exome sequencing, Skin, Pediatric, Genetics & Heredity, Congenital disorder of glycosylation, Fibroblasts, medicine.disease, Hypotonia, Brain Disorders, Phenotype, Mutation, Congenital Structural Anomalies, Muscle Hypotonia, Missense, PIGT-CDG, medicine.symptom, Acyltransferases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::081bb8382e648ddcbc33bb4683496428Test
https://doi.org/10.1016/j.ymgme.2015.04.007Test