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1دورية أكاديمية
المؤلفون: Mingqiang Ren, Nyamkhishig Sambuughin, Ognoon Mungunshukh, Daniel Baxter Edgeworth, Daniel Hupalo, Xijun Zhang, Matthew D. Wilkerson, Clifton L. Dalgard, Francis G. O’Connor, Patricia A. Deuster
المصدر: Genes, Vol 15, Iss 4, p 408 (2024)
مصطلحات موضوعية: sickle cell trait, exertional rhabdomyolysis, genome-wide association study, SCL44A3 gene, whole-genome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المصدر: Nutrients; Volume 14; Issue 14; Pages: 2966
مصطلحات موضوعية: fatty acid desaturases 1 and 2 (FADS1/2), Omega-3 Index, personalized nutrition
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Sports Nutrition; https://dx.doi.org/10.3390/nu14142966Test
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3دورية أكاديمية
المؤلفون: Nyamkhishig Sambuughin, Ognoon Mungunsukh, Mingqiang Ren, John F. Capacchione, Iren Horkayne-Szakaly, Kevin Chuang, Sheila M. Muldoon, Jonathan K. Smith, Francis G. O'Connor, Patricia A. Deuster
المصدر: Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 76-81 (2018)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S221442691830082XTest; https://doaj.org/toc/2214-4269Test
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4دورية أكاديمية
المؤلفون: Nyamkhishig Sambuughin, Mingqiang Ren, John F. Capacchione, Ognoon Mungunsukh, Kevin Chuang, Iren Horkayne-Szakaly, Francis G. O’Connor, Patricia A. Deuster
المصدر: Case Reports in Genetics, Vol 2018 (2018)
وصف الملف: electronic resource
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المؤلفون: Jennifer J Johnston, Robert T Dirksen, Thierry Girard, Phil M Hopkins, Natalia Kraeva, Mungunsukh Ognoon, K Bailey Radenbaugh, Sheila Riazi, Rachel L Robinson, Louis A Saddic, III, Nyamkhishig Sambuughin, Richa Saxena, Sarah Shepherd, Kathryn Stowell, James Weber, Seeley Yoo, Henry Rosenberg, Leslie G Biesecker
مصطلحات موضوعية: Virulence, Genetics, Humans, Genetic Variation, Ryanodine Receptor Calcium Release Channel, General Medicine, Genetic Testing, Malignant Hyperthermia, Molecular Biology, Genetics (clinical), United States, Adenosine Monophosphate
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea3ac5967860f9b5cc51dddd7bc3bb5Test
https://doi.org/10.1101/2022.06.23.497341Test -
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المؤلفون: Jennifer Johnston, Robert Dirksen, Thierry Girard, Stephen Gonsalves, Phil Hopkins, Natalia Kraeva, Mungunsukh Ognoon, Bailey Radenbaugh, Sheila Riazi, Rachel Robinson, Nyamkhishig Sambuughin, Sarah Shepherd, Kathryn Stowell, James Weber, Seeley Yoo, Henry Rosenberg, Leslie Biesecker
المصدر: Genetics in Medicine. 24:S229-S230
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4b21b94660dbdef26ba761a64810d61fTest
https://doi.org/10.1016/j.gim.2022.01.399Test -
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المؤلفون: Stephen G. Gonsalves, Robert T. Dirksen, Philip M. Hopkins, Richa Saxena, Leslie G. Biesecker, James L. Weber, Kathryn M. Stowell, Nyamkhishig Sambuughin, Sheila Riazi, Thierry Girard, Henry Rosenberg, Jennifer J. Johnston, Louis A. Saddic
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Genomics, Computational biology, 030105 genetics & heredity, Article, 03 medical and health sciences, medicine, Humans, Hyperthermia, Genetic Testing, Genetics (clinical), RYR1, Virulence, Molecular pathology, business.industry, Genome, Human, Malignant hyperthermia, Genetic Variation, Bayes Theorem, Ryanodine Receptor Calcium Release Channel, Odds ratio, medicine.disease, Pathogenicity, 030104 developmental biology, Mutation, Medical genetics, Personalized medicine, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bed287e0c2262ad26677ba75142cf389Test
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8
المؤلفون: Sheila M. Muldoon, Nyamkhishig Sambuughin, Patricia A. Deuster, Ognoon Mungunsukh, Francis G. O'Connor
المصدر: British Journal of Anaesthesia. 123:e461-e463
مصطلحات موضوعية: Population genomics, Anesthesiology and Pain Medicine, business.industry, Prevalence, Malignant hyperthermia, medicine, Humans, Genetic Predisposition to Disease, Metagenomics, Malignant Hyperthermia, Bioinformatics, medicine.disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::859854448534ebd77e8b6c8741ca14e0Test
https://doi.org/10.1016/j.bja.2019.06.010Test -
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المؤلفون: Ognoon Mungunsukh, Kevin Chuang, John F. Capacchione, Mingqiang Ren, Nyamkhishig Sambuughin, Francis G. O'Connor, Sheila M. Muldoon, Iren Horkayne-Szakaly, Patricia A. Deuster, Jonathan K. Smith
المصدر: Molecular Genetics and Metabolism Reports, Vol 16, Iss, Pp 76-81 (2018)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: 0301 basic medicine, Multiple genetic variants, Mitochondrial disease, Metabolic disorders, Mitochondrial diseases, 030105 genetics & heredity, Biology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Genetics, medicine, Molecular Biology, Gene, lcsh:QH301-705.5, Exome sequencing, Synergistic heterozygosity, lcsh:R5-920, Genetic heterogeneity, Skeletal muscle, Oligogenic Inheritance, medicine.disease, Oligogenic inheritance, medicine.anatomical_structure, lcsh:Biology (General), Exertional rhabdomyolysis, lcsh:Medicine (General), Rhabdomyolysis, 030217 neurology & neurosurgery, Research Paper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8a46165e84f17af9a2dda513566f7d7Test
http://www.sciencedirect.com/science/article/pii/S221442691830082XTest -
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المؤلفون: Robert T. Dirksen, Phil M. Hopkins, Louis A. Saddic, Henry Rosenberg, Stephen G. Gonsalves, Nyamkhishig Sambuughin, Sheila Riazi, Leslie G. Biesecker, Jennifer J. Johnston, Richa Saxena, James L. Weber, Kathryn M. Stowell, Thierry Girard
مصطلحات موضوعية: Genomic screening, RYR1, business.industry, Qualitative evidence, Medicine, Bayesian framework, Personalized medicine, Computational biology, business, Pathogenicity, Likely pathogenic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e5450551c1290c5106fd868f66907fbeTest
https://doi.org/10.1101/2020.11.29.402768Test