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1دورية أكاديمية
المؤلفون: Hanley Kingston, Adrienne M. Stilp, William Gordon, Jai Broome, Stephanie M. Gogarten, Hua Ling, John Barnard, Shannon Dugan-Perez, Patrick T. Ellinor, Stacey Gabriel, Soren Germer, Richard A. Gibbs, Namrata Gupta, Kenneth Rice, Albert V. Smith, Michael C. Zody, Scott M. Blackman, Garry Cutting, Michael R. Knowles, Yi-Hui Zhou, Margaret Rosenfeld, Ronald L. Gibson, Michael Bamshad, Alison Fohner, Elizabeth E. Blue
المصدر: HGG Advances, Vol 3, Iss 3, Pp 100117- (2022)
مصطلحات موضوعية: CFTR F508del, population structure, genome-wide association study, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Quan Sun, Weifang Liu, Jonathan D. Rosen, Le Huang, Rhonda G. Pace, Hong Dang, Paul J. Gallins, Elizabeth E. Blue, Hua Ling, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Ronald L. Gibson, Elizabeth W. Pugh, Scott M. Blackman, Garry R. Cutting, Wanda K. O'Neal, Yi-Hui Zhou, Fred A. Wright, Michael R. Knowles, Jia Wen, Yun Li
المصدر: HGG Advances, Vol 3, Iss 2, Pp 100090- (2022)
مصطلحات موضوعية: genotype imputation, mendelian disease, cystic fibrosis, polygenic risk score, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Sana Hasan, Sarah Soltman, Colleen Wood, Scott M. Blackman
المصدر: Journal of Clinical & Translational Endocrinology, Vol 27, Iss , Pp 100287- (2022)
مصطلحات موضوعية: CFTR, Genetic modifiers, β cell, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Nuria Tapia-Ruiz, Alexandra G. Gordon, Catherine M. Jewell, Hannah K. Edwards, Charles W. Dunnill, James M. Blackman, Colin P. Snape, Paul D. Brown, Ian MacLaren, Matteo Baldoni, Elena Besley, Jeremy J. Titman, Duncan H. Gregory
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-8 (2020)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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5دورية أكاديمية
المؤلفون: Marine C. N. M. Blackman, Tania Capeloa, Justin D. Rondeau, Luca X. Zampieri, Zohra Benyahia, Justine A. Van de Velde, Maude Fransolet, Evangelos P. Daskalopoulos, Carine Michiels, Christophe Beauloye, Pierre Sonveaux
المصدر: Cancers, Vol 14, Iss 18, p 4371 (2022)
مصطلحات موضوعية: breast cancer, brain metastasis, tissue-specific metastasis, organotropism, cancer metabolism, oxidative phosphorylation (OXPHOS), Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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6
المؤلفون: Yi-Hui Zhou, Paul J. Gallins, Rhonda G. Pace, Hong Dang, Melis A. Aksit, Elizabeth E. Blue, Kati J. Buckingham, Joseph M. Collaco, Anna V. Faino, William W. Gordon, Kurt N. Hetrick, Hua Ling, Weifang Liu, Frankline M. Onchiri, Kymberleigh Pagel, Elizabeth W. Pugh, Karen S. Raraigh, Margaret Rosenfeld, Quan Sun, Jia Wen, Yun Li, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Scott M. Blackman, Garry R. Cutting, Ronald L. Gibson, Wanda K. O’Neal, Fred A. Wright, Michael R. Knowles
المصدر: American Journal of Respiratory and Critical Care Medicine. 207:1324-1333
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Critical Care and Intensive Care Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d8a88ca30acf5dd09840564e633fef49
https://doi.org/10.1164/rccm.202209-1653oc -
7
المؤلفون: Melissa S. Putman, Andrew W. Norris, Rebecca L. Hull, Michael R. Rickels, Lori Sussel, Scott M. Blackman, Christine L. Chan, Katie Larson Ode, Tanicia Daley, Arlene A. Stecenko, Antoinette Moran, Meagan J. Helmick, Sharon Cray, Jessica A. Alvarez, Virginia A. Stallings, Katherine L. Tuggle, John P. Clancy, Thomas L. Eggerman, John F. Engelhardt, Andrea Kelly
المصدر: Diabetes. 72:677-689
مصطلحات موضوعية: Advanced and Specialized Nursing, Endocrinology, Diabetes and Metabolism, Internal Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eb55f5e1de29e45a35794f2f19379ee
https://doi.org/10.2337/db22-0949 -
8
المؤلفون: Quan Sun, Yingxi Yang, Jonathan D. Rosen, Min-Zhi Jiang, Jiawen Chen, Weifang Liu, Jia Wen, Laura M. Raffield, Rhonda G. Pace, Yi-Hui Zhou, Fred A. Wright, Scott M. Blackman, Michael J. Bamshad, Ronald L. Gibson, Garry R. Cutting, Michael R. Knowles, Daniel R. Schrider, Christian Fuchsberger, Yun Li
المصدر: The American Journal of Human Genetics. 109:1986-1997
مصطلحات موضوعية: Machine Learning, Genotype, Calibration, Genetics, Humans, Polymorphism, Single Nucleotide, Genetics (clinical), Genome-Wide Association Study
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b4d816b50df519646c97ca65c9e218c
https://doi.org/10.1016/j.ajhg.2022.09.009 -
9
المؤلفون: Karen S. Raraigh, Wanda K. O'Neal, Michael R. Knowles, Michael J. Bamshad, Yi-Hui Zhou, Elizabeth Blue, Garry R. Cutting, Ronald L. Gibson, Melis A. Aksit, Hua Ling, Kurt N. Hetrick, Rhonda G. Pace, Scott M. Blackman
المصدر: Journal of Cystic Fibrosis. 21:463-470
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Genetics, Whole genome sequencing, Cystic Fibrosis, Genotype, business.industry, Cystic Fibrosis Transmembrane Conductance Regulator, medicine.disease, Genome, Cystic fibrosis, DNA sequencing, Cohort Studies, Mutation, Pediatrics, Perinatology and Child Health, medicine, Humans, Coding region, Allele, business, Gene, Alleles
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10
المؤلفون: Andrew R Lavik, Osagie Ebekozien, Nudrat Noor, G Todd Alonso, Sarit Polsky, Scott M Blackman, Justin Chen, Sarah D Corathers, Carla Demeterco-Berggren, Mary Pat Gallagher, Margaret Greenfield, Ashley Garrity, Saketh Rompicherla, Robert Rapaport, Nana-Hawa Yayah Jones
المصدر: The Journal of Clinical Endocrinology & Metabolism. 107:1948-1955
مصطلحات موضوعية: Adult, Blood Glucose, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Insulins, COVID-19, nutritional and metabolic diseases, Biochemistry, Diabetic Ketoacidosis, Diabetes Mellitus, Type 1, Endocrinology, Humans, Child, Pandemics
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1863d5c41d3393fc3e1952c5fccbe59a
https://doi.org/10.1210/clinem/dgac158