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1دورية أكاديمية
المؤلفون: Parsa Akbari, Olukayode A. Sosina, Jonas Bovijn, Karl Landheer, Jonas B. Nielsen, Minhee Kim, Senem Aykul, Tanima De, Mary E. Haas, George Hindy, Nan Lin, Ian R. Dinsmore, Jonathan Z. Luo, Stefanie Hectors, Benjamin Geraghty, Mary Germino, Lampros Panagis, Prodromos Parasoglou, Johnathon R. Walls, Gabor Halasz, Gurinder S. Atwal, Regeneron Genetics Center, DiscovEHR Collaboration, Marcus Jones, Michelle G. LeBlanc, Christopher D. Still, David J. Carey, Alice Giontella, Marju Orho-Melander, Jaime Berumen, Pablo Kuri-Morales, Jesus Alegre-Díaz, Jason M. Torres, Jonathan R. Emberson, Rory Collins, Daniel J. Rader, Brian Zambrowicz, Andrew J. Murphy, Suganthi Balasubramanian, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Michael Cantor, Goncalo R. Abecasis, Manuel A. R. Ferreira, Mark W. Sleeman, Viktoria Gusarova, Judith Altarejos, Charles Harris, Aris N. Economides, Vincent Idone, Katia Karalis, Giusy Della Gatta, Tooraj Mirshahi, George D. Yancopoulos, Olle Melander, Jonathan Marchini, Roberto Tapia-Conyer, Adam E. Locke, Aris Baras, Niek Verweij, Luca A. Lotta
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Matthew T Oetjens, Jonathan Z Luo, Alexander Chang, Joseph B Leader, Dustin N Hartzel, Bryn S Moore, Natasha T Strande, H Lester Kirchner, David H Ledbetter, Anne E Justice, David J Carey, Tooraj Mirshahi
المصدر: PLoS ONE, Vol 15, Iss 11, p e0242182 (2020)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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المؤلفون: Ann Stepanchick, Jonathan Z. Luo, Bryn S. Moore, Tooraj Mirshahi
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: Genetics, Skin Neoplasms, integumentary system, Receptor expression, Genetic Variation, Biology, medicine.disease, Penetrance, Phenotype, Human genetics, Article, medicine, Missense mutation, Humans, Exome, Expressivity (genetics), Skin cancer, Hair Color, Receptor, Melanocortin, Type 1, Genetics (clinical), Exome sequencing, Alleles
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المؤلفون: Alexander R, Chang, Bryn S, Moore, Jonathan Z, Luo, Gino, Sartori, Brian, Fang, Steven, Jacobs, Yoosif, Abdalla, Mohammed, Taher, David J, Carey, William J, Triffo, Gurmukteshwar, Singh, Tooraj, Mirshahi
المصدر: JAMA
مصطلحات موضوعية: Male, TRPP Cation Channels, Exome Sequencing, Mutation, Humans, Female, General Medicine, Middle Aged, Kidney, Polycystic Kidney, Autosomal Dominant, Retrospective Studies, Original Investigation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dad9344b7cec351c92396d985d66c5a8
https://doi.org/10.1001/jama.2022.22847 -
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المؤلفون: Gail P. Jarvik, Carlos G. Vanoye, Reshma R. Desai, Lauren Lee Rinke, Hakon Hakonarson, Eric B. Larson, Ozan Dikilitas, Christian M. Shaffer, Zachary T. Yoneda, Ning Shang, George Hripcsak, Teri A. Manolio, Giovanni Davogustto, Bahram Namjou, Tooraj Mirshahi, Patrick Sleiman, Ayesha Muhammad, Elizabeth M. McNally, Olivia R. Kalash, Quinn S. Wells, Kathleen A. Leppig, Jonathan D. Mosley, Driest Slv, Jonathan Z. Luo, Daniel J. Schaid, Yuko Wada, Shoemaker Mb, Tao Yang, Wei-Qi Wei, Brett M. Kroncke, James D. Ralston, Sarah Bland, David Carrell, J. Glessner, Devyn Mitchell, Jennifer A. Pacheco, Cong Liu, Wendy K. Chung, Dan M. Roden, Chunhua Weng, Iftikhar J. Kullo, Tarek Alsaied, Sunghwan Sohn, Josh C. Denny, Adam S. Gordon, Rajbir Singh, Ashutosh Singhal, Alfred L. George, Eric Farber-Eger, Andrew M. Glazer
المصدر: Circulation
مصطلحات موضوعية: Long QT syndrome, Bioinformatics, Article, Genomic Medicine, Likely benign, Physiology (medical), medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Prospective Studies, Functional studies, Uncertain significance, Gene, Likely pathogenic, Disease gene, business.industry, Arrhythmias, Cardiac, Genomics, medicine.disease, Phenotype, Death, Sudden, Cardiac, HEK293 Cells, Cardiology and Cardiovascular Medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b5d1b477b050cc419946127ed5d8512
https://doi.org/10.1101/2021.03.30.21254549 -
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المؤلفون: William J Triffo, Bryn S. Moore, Ashima Gulati, Vicente E. Torres, Stefan Somlo, Shrikant Mane, Alex R. Chang, Whitney Besse, Tooraj Mirshahi, Jonathan Z. Luo, Dustin N. Hartzel
المصدر: Journal of the American Society of Nephrology. 30:2091-2102
مصطلحات موضوعية: 0301 basic medicine, Cystic kidney, Candidate gene, PKD1, Polycystic liver disease, 030232 urology & nephrology, Autosomal dominant polycystic kidney disease, General Medicine, Biology, medicine.disease, Kidney cysts, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Nephrology, Polycystic kidney disease, medicine, Cancer research, medicine.symptom, Protein maturation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f48670c5f8c8a90499ce21a5ad287360
https://doi.org/10.1681/asn.2019030298 -
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المؤلفون: Adam S. Gordon, Dan M. Roden, David Carrell, Brett M. Kroncke, Albert George, Yuko Wada, Ozan Dikilitas, Gail P. Jarvik, M. Benjamin Shoemaker, Kathleen A. Leppig, Jennifer A. Pacheco, James D. Ralston, Andrew M. Glazer, Kullo Iftikhar, Ashutosh Singhal, Eric B. Larson, Elizabeth M. McNally, Jonathan D. Mosley, Tarek Alsaied, Joshua C. Denny, Wendy K. Chung, Eric Farber-Eger, Sunghwan Sohn, Joseph T. Glessner, Christian M. Shaffer, Giovanni E Davogustto, Jonathan Z. Luo, Sarah T. Bland, Teri A. Manolio, Hakon Hakonarson, Shang Ning, Wei-Qi Wei, Zachary T. Yoneda, Daniel J. Schaid, Bahram Namjou, Patrick M. A. Sleiman, Sara L. Van Driest, Rajbir Singh, Olivia Kalash, Quinn S. Wells, Tooraj Mirshahi, Lauren L Rinke
المصدر: Circulation. 142
مصطلحات موضوعية: High rate, business.industry, Long QT syndrome, Bioinformatics, medicine.disease, symbols.namesake, Physiology (medical), medicine, Unselected population, Mendelian inheritance, symbols, cardiovascular diseases, Personalized medicine, Medical diagnosis, Cardiology and Cardiovascular Medicine, business, Gene, Likely pathogenic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0d974e9ff050c45946324ddc1d72d9a0
https://doi.org/10.1161/circ.142.suppl_3.14663 -
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المؤلفون: Jonathan Z. Luo, Kevin T. Ball, Olivia Best, Leah R. Miller
المصدر: Behavioural Brain Research. 319:1-8
مصطلحات موضوعية: 0301 basic medicine, SCH-23390, medicine.medical_specialty, Subsequent Relapse, media_common.quotation_subject, Dopaminergic, Physiology, D1-like receptor, Abstinence, 03 medical and health sciences, Behavioral Neuroscience, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, chemistry, Dopamine, medicine, Chronic stress, Psychiatry, Psychology, Prefrontal cortex, 030217 neurology & neurosurgery, media_common, medicine.drug
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المؤلفون: Alex C.Y. Chang, David H. Ledbetter, Dustin N. Hartzel, David J. Carey, Tooraj Mirshahi, H. Lester Kirchner, Anne E. Justice, Matthew T. Oetjens, Jonathan Z. Luo, Natasha T. Strande, Bryn S. Moore, Joseph B. Leader
المصدر: PLoS ONE
PLoS ONE, Vol 15, Iss 11, p e0242182 (2020)مصطلحات موضوعية: RNA viruses, Male, Viral Diseases, Coronaviruses, Epidemiology, medicine.medical_treatment, Electronic Medical Records, Type 2 diabetes, Disease, 030204 cardiovascular system & hematology, Medical Conditions, 0302 clinical medicine, Risk Factors, Chronic Kidney Disease, Medicine and Health Sciences, Renal Transplantation, Electronic Health Records, 030212 general & internal medicine, Pathology and laboratory medicine, Aged, 80 and over, Multidisciplinary, Medical microbiology, Middle Aged, Hospitalization, Infectious Diseases, Nephrology, Viruses, Medicine, Female, Kidney Diseases, SARS CoV 2, Pathogens, Anatomy, Information Technology, Coronavirus Infections, Research Article, Adult, Computer and Information Sciences, medicine.medical_specialty, SARS coronavirus, Science, Pneumonia, Viral, Cardiology, Surgical and Invasive Medical Procedures, Microbiology, Urinary System Procedures, End stage renal disease, Betacoronavirus, 03 medical and health sciences, Renal Dialysis, Internal medicine, Renal Diseases, medicine, Humans, Renal Insufficiency, Chronic, Risk factor, Pandemics, Dialysis, Aged, Retrospective Studies, Heart Failure, Transplantation, Biology and life sciences, SARS-CoV-2, business.industry, Organisms, Viral pathogens, COVID-19, Covid 19, Health Information Technology, Kidneys, Retrospective cohort study, Organ Transplantation, Renal System, Pennsylvania, medicine.disease, Microbial pathogens, Health Care, Medical Risk Factors, Kidney Failure, Chronic, Kidney disorder, business, Kidney disease
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المؤلفون: Kandamurugu Manickam, Uyenlinh L. Mirshahi, Jonathan Z. Luo, Tooraj Mirshahi, Amr H. Wardeh, David J. Carey, Michael F. Murray
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 21(6)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Population, Computational biology, 030105 genetics & heredity, Biology, 03 medical and health sciences, Gene Frequency, Databases, Genetic, Exome Sequencing, Humans, Exome, education, Gene, Genetics (clinical), Exome sequencing, Data Curation, Sequence (medicine), education.field_of_study, Incidental Findings, Genetic Variation, Exons, Human genetics, 030104 developmental biology, RNA splicing, Human genome, Female