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1دورية أكاديمية
المؤلفون: Laynie Dratch, Tanya M. Bardakjian, Kelsey Johnson, Nareen Babaian, Pedro Gonzalez-Alegre, Lauren Elman, Colin Quinn, Michael H. Guo, Steven S. Scherer, Defne A. Amado
المصدر: Biology, Vol 13, Iss 2, p 93 (2024)
مصطلحات موضوعية: neurogenetics, genetic testing, genetic counseling, neuromuscular, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Michael H. Guo, Prashanth Sama, Brenna A. LaBarre, Hrishikesh Lokhande, John Balibalos, Ci Chu, Xiaomi Du, Pouya Kheradpour, Charles C. Kim, Taylor Oniskey, Thomas Snyder, Damien Z. Soghoian, Howard L. Weiner, Tanuja Chitnis, Nikolaos A. Patsopoulos
المصدر: Genome Biology, Vol 23, Iss 1, Pp 1-23 (2022)
مصطلحات موضوعية: Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1474-760X
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المؤلفون: Michael H. Guo, Sanjeev N. Vaishnavi
المصدر: Current Treatment Options in Neurology. 25:121-133
مصطلحات موضوعية: Neurology (clinical)
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المؤلفون: Pedro Gonzalez-Alegre, Morgan R Brzozowski, Jennifer L. Orthmann-Murphy, Tanya Bardakjian, Lauren Elman, Thomas F. Tropea, Colin A Ellis, Colin Quinn, Michael H. Guo, Steven S. Scherer
المصدر: American Journal of Medical Genetics Part A. 185:2922-2928
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Neurology, Referral, Cost effectiveness, Cost-Benefit Analysis, Genetic counseling, Neurogenetics, 030105 genetics & heredity, 03 medical and health sciences, Exome Sequencing, Genetics, Humans, Medicine, Exome, Genetic Testing, Medical diagnosis, Genetics (clinical), Genetic testing, medicine.diagnostic_test, Diagnostic Tests, Routine, business.industry, 030104 developmental biology, Medical genetics, Female, Nervous System Diseases, business
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المؤلفون: Andrew D Beswick, Tõnu Esko, Niki Dimou, Xue Zhong, Jette Bork-Jensen, Petra Schubert, Masato Akiyama, Girish N. Nadkarni, Ruth J. F. Loos, Huijun Qian, Michele K. Evans, Stephen S. Rich, Nicole Soranzo, Henry Völzke, Yongmei Liu, Nicholas A. Watkins, Markus M. Lerch, Richard C. Trembath, Adam S. Butterworth, Erwin P. Bottinger, Jennifer E. Huffman, Bruce M. Psaty, Jingzhong Ding, Michael Preuss, Yoav Ben-Shlomo, Bhavi Trivedi, Yoichiro Kamatani, David A. van Heel, Kjell Nikus, Torben Hansen, Adolfo Correa, Mohsen Ghanbari, Paul L. Auer, Véronique Laplante, Ken Sin Lo, Hua Tang, Peter W.F. Wilson, Paul Elliott, David J. Roberts, Hilary C. Martin, Jean-Claude Tardif, Praveen Surendran, Regina Manansala, Terho Lehtimäki, Emanuele Di Angelantonio, Fotis Koskeridis, Alexander P. Reiner, Mélissa Beaudoin, Vijay G. Sankaran, Benjamin Rodriguez, William J. Astle, Parsa Akbari, Frank J. A. van Rooij, Yun Li, Andreas Greinacher, Abdou Mousas, Andrew D. Johnson, Yukinori Okada, Michael H. Guo, Leo-Pekka Lyytikäinen, Traci M. Bartz, Minhui Chen, Alan B. Zonderman, Niels Grarup, Oluf Pedersen, Kumaraswamynaidu Chitrala, Jeffrey Haessler, Ming-Huei Chen, Cassandra N. Spracklen, Karen L. Mohlke, Guillaume Lettre, Erik L. Bao, Bingshan Li, James S. Floyd, Wei Huang, Ani Manichaikul, John Danesh, Uwe Völker, Allan Linneberg, Evangelos Evangelou, Joanna M. M. Howson, Olli T. Raitakari, Tim Kacprowski, Jean-François Gauchat, Hélène Choquet, Arden Moscati, Saori Sakaue, Mika Kähönen, Linda Broer, Caleb A. Lareau, Qin Qin Huang, Matthias Nauck, Yoshinori Murakami, Charleston W. K. Chiang, VA Million Veteran Program, Nina Mononen, Tao Jiang, Laura M. Raffield, Jerome I. Rotter, Leslie A. Lange, Jonathan D. Rosen, Eric Jorgenson, Savita Karthikeyan, Karen A. Hunt, Nathan Pankratz, Kelly Cho, Masahiro Kanai, Willem H. Ouwehand, Jennifer A. Brody, Koichi Matsuda, Dragana Vuckovic
المساهمون: Epidemiology, Internal Medicine
المصدر: Cell
Lettre, G & Auer, P L 2020, ' Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations ', Cell, vol. 182, no. 5, pp. 1198-1213.e14 . https://doi.org/10.1016/j.cell.2020.06.045
Cell, 182(5), 1198-1213.e14. Cell Press
Chen, M-H, Raffield, L M, Mousas, A, Sakaue, S, Huffman, J E, Moscati, A, Trivedi, B, Jiang, T, Akbari, P, Vuckovic, D, Bao, E L, Zhong, X, Manansala, R, Laplante, V, Chen, M, Lo, K S, Qian, H, Lareau, C A, Beaudoin, M, Hunt, K A, Akiyama, M, Bartz, T M, Ben-Shlomo, Y, Beswick, A, Bork-Jensen, J, Bottinger, E P, Brody, J A, van Rooij, F J A, Chitrala, K, Cho, K, Choquet, H, Correa, A, Danesh, J, Di Angelantonio, E, Dimou, N, Ding, J, Elliott, P, Esko, T, Evans, M K, Floyd, J S, Broer, L, Grarup, N, Guo, M H, Greinacher, A, Haessler, J, Hansen, T, Howson, J M M, Linneberg, A, Pedersen, O, Loos, R J F & VA Million Veteran Program 2020, ' Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations ', Cell, vol. 182, no. 5, pp. 1198-+ . https://doi.org/10.1016/j.cell.2020.06.045مصطلحات موضوعية: LOCI, Mutation, Missense, Ethnic group, POLYGENIC RISK SCORES, HUMAN HEMATOPOIESIS, Biology, BIOBANK, phenome-wide association study, Polymorphism, Single Nucleotide, DISEASE, White People, General Biochemistry, Genetics and Molecular Biology, Article, Blood cell, 03 medical and health sciences, SINGLE-CELL, selective sweeps, 0302 clinical medicine, Asian People, parasitic diseases, Genetics, medicine, Humans, GENOME-WIDE ASSOCIATION, 030304 developmental biology, AFRICAN-AMERICANS, 0303 health sciences, interleukin-7, Interleukin-7, genetic architecture, Genetic architecture, TRAIT, HEK293 Cells, Phenotype, medicine.anatomical_structure, fine-mapping, polygenic trait score, lipids (amino acids, peptides, and proteins), FREQUENCY CODING VARIANTS, 030217 neurology & neurosurgery, Genome-Wide Association Study
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1811f60972354d4d9bffd608966f4ea
https://pure.eur.nl/en/publications/b0512e42-bb15-4b65-9524-08ef2dd4cd7d -
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المؤلفون: Michael H. Guo, Prashanth Sama, Brenna A. LaBarre, Hrishikesh Lokhande, John Balibalos, Ci Chu, Xiaomi Du, Pouya Kheradpour, Charles C. Kim, Taylor Oniskey, Thomas Snyder, Damien Z. Soghoian, Howard L. Weiner, Tanuja Chitnis, Nikolaos A. Patsopoulos
المصدر: Genome biology. 23(1)
مصطلحات موضوعية: CD4-Positive T-Lymphocytes, B-Lymphocytes, Multiple Sclerosis, Immunity, Humans, Chromatin
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المؤلفون: Thierry Brue, Jacob O. Kitzman, Frédérique Albarel, Cathy Smith, Julian Martinez Mayer, Hironori Bando, Peter Gergics, Mariam Maksutova, Debora Braslavsky, Julia Hoppmann, Sebastián Alexis Vishnopolska, Rami Abou Jamra, Qianyi Ma, Ignacio Bergadá, Berenice B. Mendonca, Frederic Castinetti, Sally A. Camper, Qing Fang, Marilena Nakaguma, Alexander A. L. Jorge, María Inés Pérez Millán, Ivo J.P. Arnhold, Michael H. Guo, Ana Keselman, Anne Barlier, Luciani R. Carvalho, A. Bilge Ozel, Roland Pfaeffle, Sajini Jayakody, Denise Rockstroh-Lippold, Andrew Dauber, Jun Li, Alexandru Saveanu, Marcelo A. Martí
المساهمون: University of Michigan [Ann Arbor], University of Michigan System, Universidade de São Paulo = University of São Paulo (USP), University Hospital Leipzig, Universidad de Buenos Aires [Buenos Aires] (UBA), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Marseille Maladies Rares (MarMaRa), Aix Marseille Université (AMU), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], University of Luebeck, Hospital de Niños 'Ricardo Gutiérrez', Laboratoire de Biochimie et de Biologie Moléculaire [Hôpital de la Conception - APHM], Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Leipzig University, West Chester University of Pennsylvania (WCUPA), National Children's Hospital, National Institutes of Health (R01HD097096to SAC, R01GM129123 to JOK), the Japan Society for Promotion of Science (HB), Grant 2013/03236-5 from the São Paulo Research Foundation (FAPESP) (IJPA), a grant from Pfizer (RP), and the Argentinean National Agency of Scientific and Technical Promotion, PICT 2016-2913 and PICT 2017-0002 (MIPM), Universidade de São Paulo (USP), University of Leipzig Medical Center, Gall, Valérie
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (8), pp.1526-1539. ⟨10.1016/j.ajhg.2021.06.013⟩
Am J Hum Genetمصطلحات موضوعية: Adult, Male, Gene isoform, growth hormone deficiency, PIT-1, variants of uncertain significance, Adolescent, RNA Splicing, [SDV]Life Sciences [q-bio], Repressor, 030209 endocrinology & metabolism, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, Article, Growth hormone deficiency, 03 medical and health sciences, alternative splicing, 0302 clinical medicine, multiplexed assays of variant effects, Genetics, medicine, Humans, Missense mutation, splice, transcriptional regulation, Child, massively parallel splicing assay, Genetics (clinical), Loss function, 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Alternative splicing, medicine.disease, High-Throughput Screening Assays, Pedigree, [SDV] Life Sciences [q-bio], Pituitary Hormones, hypopituitarism, Child, Preschool, Mutation, RNA splicing, Transcription Factor Pit-1, General Economics, Econometrics and Finance, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e3a2583e4d44ed020745730261e348e
https://hal-amu.archives-ouvertes.fr/hal-03293410/document -
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المؤلفون: Michael H. Guo, Ryan Tewhey, Nir Hacohen, de Boer Cg, Gregory A. Newby, David R. Liu, Matteo Gentili, Mouri K, John P. Ray
مصطلحات موضوعية: Autoimmune disease, Genetics, medicine.anatomical_structure, T cell, medicine, Genetic variants, Cytotoxic T cell, Locus (genetics), Biology, medicine.disease, Gene, Chromatin, Genetic association
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e492912fad895c3097e8f461694c7128
https://doi.org/10.1101/2021.05.30.445673 -
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المؤلفون: Howard L. Weiner, Ci Chu, Damien Z. Soghoian, Nikolaos A. Patsopoulos, Xiaomi Du, Pouya Kheradpour, Hrishikesh Lokhande, Tanuja Chitnis, Prashanth Sama, Michael H. Guo, Taylor K. Oniskey, Brenna A. LaBarre, Charles C. Kim, Thomas Snyder, John Balibalos
مصطلحات موضوعية: Genetics, Cell type, Haematopoiesis, medicine.anatomical_structure, Immune system, Multiple sclerosis, Cell, medicine, Epigenetics, Biology, medicine.disease, Gene, Chromatin
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a22b3701ab6423a38670359192a14790
https://doi.org/10.1101/2021.05.24.445445 -
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المؤلفون: Kousuke Mouri, Michael H. Guo, Carl G. de Boer, Michelle M. Lissner, Ingrid A. Harten, Gregory A. Newby, Hannah A. DeBerg, Winona F. Platt, Matteo Gentili, David R. Liu, Daniel J. Campbell, Nir Hacohen, Ryan Tewhey, John P. Ray
المصدر: Nat Genet
مصطلحات موضوعية: Mice, T-Lymphocytes, Genetics, Animals, Genetic Predisposition to Disease, Regulatory Sequences, Nucleic Acid, Polymorphism, Single Nucleotide, Alleles, Article, Autoimmune Diseases, Genome-Wide Association Study