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1دورية أكاديمية
المؤلفون: Marie C. Schoelmerich, Lynn Ly, Jacob West-Roberts, Ling-Dong Shi, Cong Shen, Nikhil S. Malvankar, Najwa Taib, Simonetta Gribaldo, Ben J. Woodcroft, Christopher W. Schadt, Basem Al-Shayeb, Xiaoguang Dai, Christopher Mozsary, Scott Hickey, Christine He, John Beaulaurier, Sissel Juul, Rohan Sachdeva, Jillian F. Banfield
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Tobias T. Schmidt, Carly Tyer, Preeyesh Rughani, Candy Haggblom, Jeffrey R. Jones, Xiaoguang Dai, Kelly A. Frazer, Fred H. Gage, Sissel Juul, Scott Hickey, Jan Karlseder
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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3دورية أكاديمية
المؤلفون: Saravanan Ganesan, Mariela Cortés-López, Ariel D. Swett, Xiaoguang Dai, Scott Hickey, Paulina Chamely, Allegra G. Hawkins, Sissel Juul, Dan A. Landau, Federico Gaiti
المصدر: STAR Protocols, Vol 5, Iss 2, Pp 102966- (2024)
مصطلحات موضوعية: Single Cell, Genomics, Sequencing, RNA-seq, Molecular Biology, Gene Expression, Science (General), Q1-390
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Swetha Ramadesikan, Caitlyn Colwell, Mohammad Marhabaie, Leeran Dublin-Ryan, Iftekhar Showpnil, Umamaheswaran Gurusamy, Jesse Hunter, Allison Daley, Elizabeth Varga, Marco Leung, Rolf Stottmann, Bimal Chaudhari, Scott Hickey, Peter White, Daniel Koboldt, Richard Wilson
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101080- (2024)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Amanda Moccia, Brandon Stone, Liana Hernandez, Scott Hickey, Jesse Hunter, Hui Mei
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101222- (2024)
وصف الملف: electronic resource
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6دورية أكاديمية
المصدر: In Children and Youth Services Review January 2019 96:194-203
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7
المؤلفون: Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer
المساهمون: Institut Català de la Salut, [Maia N, Marques I] Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magãlhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto) Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal. [Ibarluzea N] Biocruces Bizkaia Health Research Institute, Barakaldo, Spain. [Misra-Isrie M] Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. [Koboldt DC] Steve and Cindy Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA. [Soares G] Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal. [Valenzuela I] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143مصطلحات موضوعية: Discapacitat intel·lectual - Aspectes genètics, Anomalies cromosòmiques, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Genetics, Other subheadings::Other subheadings::/genetics [Other subheadings], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Genetics (clinical), Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES]
وصف الملف: application/pdf
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8
المؤلفون: Federico Gaiti, Paulina Chamely, Allegra G. Hawkins, Mariela Cortés-López, Ariel D. Swett, Saravanan Ganesan, Tarek H. Mouhieddine, Xiaoguang Dai, Lloyd Kluegel, Celine Chen, Kiran Batta, John Beaulaurier, Alexander W. Drong, Scott Hickey, Neville Dusaj, Gavriel Mullokandov, Jiayu Su, Ronan Chaligné, Sissel Juul, Eoghan Harrington, David A. Knowles, Daniel H. Wiseman, Irene M. Ghobrial, Justin Taylor, Omar Abdel-Wahab, Dan A. Landau
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::048e8cb053754d0ecb272f6a7fbd2686
https://doi.org/10.1101/2022.06.08.495292 -
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المؤلفون: Jae Young, Choi, Xiaoguang, Dai, Ornob, Alam, Julie Z, Peng, Priyesh, Rughani, Scott, Hickey, Eoghan, Harrington, Sissel, Juul, Julien F, Ayroles, Michael D, Purugganan, Elizabeth A, Stacy
المصدر: Proceedings of the National Academy of Sciences of the United States of America
مصطلحات موضوعية: Polymorphism, Genetic, Genetic Speciation, Evolution, Myrtaceae, Metrosideros, incipient speciation, Biological Sciences, Adaptation, Physiological, Radiation Tolerance, Evolution, Molecular, Genetics, Population, Phenotype, Radiation, Ionizing, ecological speciation, adaptive radiation, speciation genomics
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3d41877ff1971b08c856aa7c75c8d334
https://pubmed.ncbi.nlm.nih.gov/34497122 -
10
المؤلفون: Vanesa A. Ringle, Amanda Jensen-Doss, J. Scott Hickey
المصدر: Children and Youth Services Review. 96:194-203
مصطلحات موضوعية: Service (business), Quality management, Sociology and Political Science, Level of service, media_common.quotation_subject, 05 social sciences, 050301 education, Public policy, Mental health, Article, Education, Nursing, Developmental and Educational Psychology, 0501 psychology and cognitive sciences, Quality (business), Business, Empirical evidence, 0503 education, Utilization management, 050104 developmental & child psychology, media_common