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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
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247722000331Test; https://doaj.org/toc/2666-2477Test
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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
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247722000069Test; https://doaj.org/toc/2666-2477Test
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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
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214623721000399Test; https://doaj.org/toc/2214-6237Test
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4
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d8a88ca30acf5dd09840564e633fef49Test
https://doi.org/10.1164/rccm.202209-1653ocTest -
5
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eb55f5e1de29e45a35794f2f19379eeTest
https://doi.org/10.2337/db22-0949Test -
6
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b4d816b50df519646c97ca65c9e218cTest
https://doi.org/10.1016/j.ajhg.2022.09.009Test -
7
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a409da7f5676649f85837adef4c37f67Test
https://doi.org/10.1016/j.jcf.2021.10.011Test -
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1863d5c41d3393fc3e1952c5fccbe59aTest
https://doi.org/10.1210/clinem/dgac158Test -
9دورية أكاديمية
المؤلفون: Jiafen Gong, Fan Wang, Bowei Xiao, Naim Panjwani, Fan Lin, Katherine Keenan, Julie Avolio, Mohsen Esmaeili, Lin Zhang, Gengming He, David Soave, Scott Mastromatteo, Zeynep Baskurt, Sangook Kim, Wanda K O'Neal, Deepika Polineni, Scott M Blackman, Harriet Corvol, Garry R Cutting, Mitchell Drumm, Michael R Knowles, Johanna M Rommens, Lei Sun, Lisa J Strug
المصدر: PLoS Genetics, Vol 15, Iss 2, p e1008007 (2019)
العلاقة: https://doi.org/10.1371/journal.pgen.1008007Test; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test; https://doaj.org/article/3c571d7e43ec4d68b05079348aa2ac8eTest
الإتاحة: https://doi.org/10.1371/journal.pgen.1008007Test
https://doaj.org/article/3c571d7e43ec4d68b05079348aa2ac8eTest -
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المؤلفون: Melis Atalar Aksit, Joseph M. Collaco, Scott M. Blackman, Margaret Rosenfeld, Yi-Hui Zhou, Elizabeth E. Blue, Karen S. Raraigh, Garry R. Cutting, Frankline Onchiri, Michael R. Knowles, William W. Gordon, Ronald L. Gibson, Michael J. Bamshad, Anna V. Faino, Rhonda G. Pace
المصدر: Journal of Cystic Fibrosis. 21:40-44
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Gold standard, EPIC, medicine.disease, Cystic fibrosis, Chronic infection, Pseudomonas infection, Internal medicine, Pediatrics, Perinatology and Child Health, Cohort, medicine, Observational study, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c96a581b26bab39607beb56c88939401Test
https://doi.org/10.1016/j.jcf.2021.07.020Test