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1دورية أكاديمية
المؤلفون: Matheus V. M. B. Wilke, Eric W. Klee, Radhika Dhamija, Fernando C. Fervenza, Brittany Thomas, Nelson Leung, Marie C. Hogan, Megan M. Hager, Kayla J. Kolbert, Jennifer L. Kemppainen, Elle C. Loftus, Katie M. Leitzen, Carolyn R. Vitek, Tammy McAllister, Konstantinos N. Lazaridis, Filippo Pinto e Vairo
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Rare diseases, Genetic testing, Diagnostic yield, Gene panels, Exome, Genome, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Filippo Pinto e Vairo, Carri Prochnow, Jennifer L. Kemppainen, Emily C. Lisi, Joan M. Steyermark, Teresa M. Kruisselbrink, Pavel N. Pichurin, Rhadika Dhamija, Megan M. Hager, Sam Albadri, Lynn D. Cornell, Konstantinos N. Lazaridis, Eric W. Klee, Sarah R. Senum, Mireille El Ters, Hatem Amer, Linnea M. Baudhuin, Ann M. Moyer, Mira T. Keddis, Ladan Zand, David J. Sas, Stephen B. Erickson, Fernando C. Fervenza, John C. Lieske, Peter C. Harris, Marie C. Hogan
المصدر: Kidney Medicine, Vol 3, Iss 5, Pp 785-798 (2021)
مصطلحات موضوعية: Genomics, individualized medicine, nephrology, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2590059521001187Test; https://doaj.org/toc/2590-0595Test
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3دورية أكاديمية
المؤلفون: Jenelle Cocorpus, Megan M Hager, Corinne Benchimol, Vanesa Bijol, Fadi Salem, Sumit Punj, Laura Castellanos, Pamela Singer, Christine B Sethna, Abby Basalely
المصدر: BMC Nephrology, Vol 23, Iss 1, Pp 1-10 (2022)
مصطلحات موضوعية: Case report, Alport syndrome, COL4A4, Genetic testing, Variant interpretations, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2369Test
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المؤلفون: Karen Stern, Tim Shimon, Filippo Vairo, Gopal Narang, Megan M. Hager, Mira A Keddis, Jonathan Moore, Mitchell R. Humphreys
المصدر: Uro, Vol 1, Iss 11, Pp 76-81 (2021)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, endocrine system, business.industry, 030232 urology & nephrology, medicine.disease, urologic and male genital diseases, Gastroenterology, Diseases of the genitourinary system. Urology, Hypomagnesemia, Progressive renal failure, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Tubulopathy, Internal medicine, nephrocalcinosis, Medicine, FHHNC, Hypercalciuria, CLDN16, RC870-923, Nephrocalcinosis, business, nephrolithiasis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::607f3d07ed0b1ff6d27fea6093e50a0dTest
https://www.mdpi.com/2673-4397/1/3/11Test -
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المؤلفون: Gavin R. Oliver, Jennifer L. Kemppainen, Ashley N. Sigafoos, Konstantinos N. Lazaridis, Megan M. Hager, Teresa M. Kruisselbrink, Jessica Jackson, Jessica M. Tarnowski, Laura Rust, Nicole J. Boczek, Cherisse A. Marcou, Nicole L. Bertsch, Marissa S. Ellingson, Pavel N. Pichurin, Brendan C. Lanpher, Sarah K. Macklin-Mantia, Dusica Babovic-Vuksanovic, Gianrico Farrugia, Eva Morava-Kozicz, Aditi Gupta, Lauren Gunderson, Paldeep S. Atwal, Jolene M. Summer Bolster, Michael T. Zimmermann, Marine I. Murphree, A. Keith Stewart, Carrie A. Lahner, Tanya L. Schwab, Zhiyv Niu, Tammy M. McAllister, Matthew J. Ferber, Lindsay A. Mulvihill, Ralitza H. Gavrilova, Kristen J. Rasmussen, Laura Schultz-Rogers, Sarah A. Kroc, Carri A. Prochnow, Scott A. Beck, Joel A. Morales-Rosado, Garrett Jenkinson, Eric W. Klee, Filippo Vairo, Karl J. Clark, Stacy L. Aoudia, Katherine Agre, Rebecca J. Lowy, David R. Deyle, Alejandro Ferrer, Erica L. Macke, Lisa A. Schimmenti, Sarah S. Barnett, Laura J. Fisher, Margot A. Cousin, Rory J. Olson, Radhika Dhamija, Linda Hasadsri, Patrick R. Blackburn, Raul Urrutia, Charu Kaiwar, Klaas J. Wierenga
المصدر: Genetics in Medicine. 25:100359
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Multivariate analysis, business.industry, Translational research, Genomics, Disease, 030105 genetics & heredity, Omics, Undiagnosed Diseases, Translational Research, Biomedical, 03 medical and health sciences, 030104 developmental biology, Phenotype, Exome Sequencing, Medicine, Humans, Exome, Personalized medicine, Genetic Testing, business, Exome sequencing, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed701e7ad61196d0260a02ac5deae04aTest
https://doi.org/10.1016/j.gim.2022.12.006Test -
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المؤلفون: Niloy Jewel Samadder, Brenda Ernst, Scott H. Okuno, Myra J. Wick, Robert L. Nussbaum, Keith Stewart, Megan M. Hager, Pls Uson Junior, Cindy Azevedo, Douglas L. Riegert-Johnson, Margaret Klint, Michael A. Golafshar, Edward D. Esplin, Donald W. Northfelt, Deborah J. Rhodes, Katie L. Kunze, Sarah Mantia, Natalie Ertz-Archambault
المصدر: Cancer Research. 81:PD10-05
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Cancer, medicine.disease, Germline mutation, Breast cancer, Internal medicine, Cancer screening, medicine, Cancer Family, business, Prospective cohort study, CHEK2, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::88204478e38afcf78c74948755da7134Test
https://doi.org/10.1158/1538-7445.sabcs20-pd10-05Test -
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المؤلفون: Herchran Singh, Joel A. Morales-Rosado, Brandon T. Larsen, Rory J. Olson, Megan M. Hager, Radhika Dhamija, Eric W. Klee
المصدر: American Journal of Medical Genetics Part A.
مصطلحات موضوعية: musculoskeletal diseases, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, business.industry, Multiple Lentigines, Protein tyrosine phosphatase, medicine.disease, Germline, PTPN11, Genetics, medicine, Noonan syndrome, Ganglioneuroma, business, Genetics (clinical), Blood sampling
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a1e7c3c30329afff81d06547e4faf797Test
https://doi.org/10.1002/ajmg.a.62178Test -
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المؤلفون: Eduardo A. Rodriguez, Michael Lehrer, Cindy Azevedo, Michael A. Golafshar, Natalie Ertz-Archambault, Blanca Lizaola-Mayo, Sarah K. Macklin-Mantia, Lisa A. Boardman, Tanios Bekaii-Saab, Richard R. Sharp, Luke Mountjoy, C.S. Thorpe, Pedro L.S. Uson, Megan M. Hager, Nathan Y. Yu, Katie L. Kunze, Scott H. Okuno, Douglas L. Riegert-Johnson, Aleksandar Sekulic, Margaret Klint, Robert L. Nussbaum, Deborah J. Rhodes, Edward D. Esplin, N. Jewel Samadder, Alan H. Bryce, Myra J. Wick, Neej J. Patel, A. Keith Stewart
المصدر: JAMA Oncology. 7:230
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Cancer, Guideline, Disease, medicine.disease, Germline, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Internal medicine, Cancer screening, medicine, 030212 general & internal medicine, Family history, business, Genetic testing, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2d945dea4ca0120a0c1362845be7ab19Test
https://doi.org/10.1001/jamaoncol.2020.6252Test