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1دورية أكاديمية
المؤلفون: Bupp, Caleb P, Ames, Elizabeth G, Arenchild, Madison K, Caylor, Sara, Dimmock, David P, Fakhoury, Joseph D, Karna, Padmani, Lehman, April, Meghea, Cristian I, Misra, Vinod, Nolan, Danielle A, O'Shea, Jessica, Sharangpani, Aditi, Franck, Linda S, Scheurer-Monaghan, Andrea
المصدر: Children. 10(1)
مصطلحات موضوعية: Health Services and Systems, Health Sciences, Genetics, Clinical Research, Human Genome, Pediatric, Good Health and Well Being, rapid whole genome sequencing, genetics, genomics, pediatrics, hospital medicine, medical technology and advancement, reimbursement, quality improvement, Paediatrics, Public health
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/91c4k3p4Test
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2دورية أكاديمية
المؤلفون: Kingsmore, Stephen F, Smith, Laurie D, Kunard, Chris M, Bainbridge, Matthew, Batalov, Sergey, Benson, Wendy, Blincow, Eric, Caylor, Sara, Chambers, Christina, Del Angel, Guillermo, Dimmock, David P, Ding, Yan, Ellsworth, Katarzyna, Feigenbaum, Annette, Frise, Erwin, Green, Robert C, Guidugli, Lucia, Hall, Kevin P, Hansen, Christian, Hobbs, Charlotte A, Kahn, Scott D, Kiel, Mark, Van Der Kraan, Lucita, Krilow, Chad, Kwon, Yong H, Madhavrao, Lakshminarasimha, Le, Jennie, Lefebvre, Sebastien, Mardach, Rebecca, Mowrey, William R, Oh, Danny, Owen, Mallory J, Powley, George, Scharer, Gunter, Shelnutt, Seth, Tokita, Mari, Mehtalia, Shyamal S, Oriol, Albert, Papadopoulos, Stavros, Perry, James, Rosales, Edwin, Sanford, Erica, Schwartz, Steve, Tran, Duke, Reese, Martin G, Wright, Meredith, Veeraraghavan, Narayanan, Wigby, Kristen, Willis, Mary J, Wolen, Aaron R, Defay, Thomas
المصدر: American Journal of Human Genetics. 109(9)
مصطلحات موضوعية: Genetic Testing, Pediatric, Genetics, Brain Disorders, Clinical Research, Prevention, Human Genome, Perinatal Period - Conditions Originating in Perinatal Period, Rare Diseases, Good Health and Well Being, Child, Critical Illness, Humans, Infant, Newborn, Neonatal Screening, Precision Medicine, Retrospective Studies, UK Biobank, clinical decision support, clinical utility, diagnosis, diagnostic odyssey, gene therapy, genetic disease, newborn screening, orphan drug, rapid whole-genome sequencing, sensitivity, specificity, virtual management guidance, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3tv469xnTest
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3دورية أكاديمية
المؤلفون: Kobayashi, Erica Sanford, Waldman, Bryce, Engorn, Branden M, Perofsky, Katherine, Allred, Erika, Briggs, Benjamin, Gatcliffe, Chelsea, Ramchandar, Nanda, Gold, Jeffrey J, Doshi, Ami, Ingulli, Elizabeth G, Thornburg, Courtney D, Benson, Wendy, Farnaes, Lauge, Chowdhury, Shimul, Rego, Seema, Hobbs, Charlotte, Kingsmore, Stephen F, Dimmock, David P, Coufal, Nicole G
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Pediatric, Patient Safety, Health Services, Clinical Research, Human Genome, Cost Effectiveness Research, Comparative Effectiveness Research, Genetics, Good Health and Well Being, genomic sequencing, rapid whole genome sequencing, pediatric intensive care, critical care, cost analysis, health economics, quality adjusted life year, Paediatrics and Reproductive Medicine, Other Medical and Health Sciences, Paediatrics
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2r72n22qTest
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4دورية أكاديمية
المؤلفون: Dimmock, David P, Clark, Michelle M, Gaughran, Mary, Cakici, Julie A, Caylor, Sara A, Clarke, Christina, Feddock, Michele, Chowdhury, Shimul, Salz, Lisa, Cheung, Cynthia, Bird, Lynne M, Hobbs, Charlotte, Wigby, Kristen, Farnaes, Lauge, Bloss, Cinnamon S, Kingsmore, Stephen F, Investigators, the RCIGM, Bainbridge, Matthew N, Barea, Jaime, Batalov, Sergey, Bezares, Zaira, Braun, Joshua JA, Del Campo, Miguel, Carroll, Jeanne, Cohenmeyer, Casey, Coufal, Nicole G, Diaz, Carlos, Ding, Yan, Ellsworth, Katarzyna, Evans, Marva, Feigenbaum, Annette, Friedman, Jennifer, Gleeson, Joe, Hansen, Christian, Honold, Jose, James, Kiely, Jones, Marilyn C, Kimball, Amy, Knight, Gail, Van Der Kraan, Lucitia, Lane, Brian, Le, Jennie, Leibel, Sandra, Lenberg, Jerica, Mashburn, Dana, Moyer, Laurel, Mulrooney, Patrick, Nahas, Shareef, Oh, Daeheon, Orendain, Daniken, Oriol, Albert, Ortiz-Arechiga, Maria, Prince, Lance, Rego, Seema, Reyes, Iris, Sanford, Erica, Sauer, Charles, Schwanemann, Leila, Speziale, Mark, Suttner, Denise, Sweeney, Nathaly, Song, Richard, Tokita, Mari, Veeraraghavan, Narayanan, Watkins, Kelly, Wong, Terence, Wright, Meredith S, Yamada, Catherine
المصدر: American Journal of Human Genetics. 107(5)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Health Sciences, Genetics, Clinical Trials and Supportive Activities, Clinical Research, Biotechnology, Infectious Diseases, Pediatric, Human Genome, Good Health and Well Being, Chromosome Mapping, Clinical Decision-Making, Critical Illness, Disease Management, Female, Genetic Diseases, Inborn, Genetic Testing, Genome, Human, Humans, Infant, Infant, Newborn, Intensive Care Units, Neonatal, Logistic Models, Male, Prospective Studies, Time Factors, Whole Genome Sequencing, RCIGM Investigators, NSIGHT2, clinical utility, diagnostic testing outcomes, healthcare cost-benefit analysis, neonatal intensive care unit, pediatric intensive care unit, rapid whole-exome sequencing, rapid whole-genome sequencing, ultra-rapid whole-genome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
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5دورية أكاديمية
المؤلفون: Ana Maria Rodriguez, Katherine Schain, Parul Jayakar, Meredith S. Wright, Shimul Chowdhury, Daria Salyakina
المصدر: Clinical Case Reports, Vol 11, Iss 8, Pp n/a-n/a (2023)
مصطلحات موضوعية: ICU, MAGEL2, phenotype–genotype association, rapid whole genome sequencing, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-0904Test
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6دورية أكاديمية
المؤلفون: Kingsmore, Stephen F, Cakici, Julie A, Clark, Michelle M, Gaughran, Mary, Feddock, Michele, Batalov, Sergey, Bainbridge, Matthew N, Carroll, Jeanne, Caylor, Sara A, Clarke, Christina, Ding, Yan, Ellsworth, Katarzyna, Farnaes, Lauge, Hildreth, Amber, Hobbs, Charlotte, James, Kiely, Kint, Cyrielle I, Lenberg, Jerica, Nahas, Shareef, Prince, Lance, Reyes, Iris, Salz, Lisa, Sanford, Erica, Schols, Peter, Sweeney, Nathaly, Tokita, Mari, Veeraraghavan, Narayanan, Watkins, Kelly, Wigby, Kristen, Wong, Terence, Chowdhury, Shimul, Wright, Meredith S, Dimmock, David, Investigators, the RCIGM, Bezares, Zaira, Bloss, Cinnamon, Braun, Joshua JA, Diaz, Carlos, Mashburn, Dana, Tamang, Dorjee, Orendain, Daniken, Friedman, Jenni, Gleeson, Joe, Barea, Jaime, Chiang, George, Cohenmeyer, Casey, Coufal, Nicole G, Evans, Marva, Honold, Jose, Hovey, Raymond L, Kimball, Amy, Lane, Brian, Le, Crystal, Le, Jennie, Leibel, Sandra, Moyer, Laurel, Mulrooney, Patrick, Oh, Daeheon, Ordonez, Paulina, Oriol, Albert, Ortiz-Arechiga, Maria, Puckett, Laura, Speziale, Mark, Suttner, Denise, Van Der Kraan, Lucitia, Knight, Gail, Sauer, Charles, Song, Richard, White, Sarah, Wise, Audra, Yamada, Catherine
المصدر: American Journal of Human Genetics. 105(4)
مصطلحات موضوعية: Human Genome, Pediatric, Clinical Research, Genetics, Clinical Trials and Supportive Activities, Good Health and Well Being, Genetic Testing, Humans, Infant, Infant, Newborn, Exome Sequencing, Whole Genome Sequencing, RCIGM Investigators, diagnosis, genetic disease, genomic medicine, infant, intensive care unit, precision medicine, ultra-rapid whole-genome sequencing, whole-exome sequencing, whole-genome sequencing, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9h05k7vhTest
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7دورية أكاديمية
المؤلفون: Lumaka Zola, Aimé, Fasquelle, Corinne, Debray, François-Guillaume, Alkan, Serpil, Jacquinet, Adeline, Harvengt, Julie, Boemer, François, Mulder, André, VAESSEN, Sandrine, Viellevoye, Renaud, Palmeira, Leonor, CHARLOTEAUX, Benoit, Brysse, Anne, BULK, Saskia, Rigo, Vincent, Bours, Vincent
المصدر: International Journal of Molecular Sciences, 24 (4), 4003 (2023-02-16)
مصطلحات موضوعية: Base Space Sequence Hub, Dragen, NICU, NICU-Seq, critically ill newborn, rWGS, rapid whole genome sequencing, Inorganic Chemistry, Organic Chemistry, Physical and Theoretical Chemistry, Computer Science Applications, Spectroscopy, Molecular Biology, General Medicine, Catalysis, Human health sciences, Sciences de la santé humaine
العلاقة: https://www.mdpi.com/1422-0067/24/4/4003/pdfTest; urn:issn:1661-6596; urn:issn:1422-0067
الوصول الحر: https://orbi.uliege.be/handle/2268/301232Test
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8دورية أكاديمية
المؤلفون: Aimé Lumaka, Corinne Fasquelle, Francois-Guillaume Debray, Serpil Alkan, Adeline Jacquinet, Julie Harvengt, François Boemer, André Mulder, Sandrine Vaessen, Renaud Viellevoye, Leonor Palmeira, Benoit Charloteaux, Anne Brysse, Saskia Bulk, Vincent Rigo, Vincent Bours
المصدر: International Journal of Molecular Sciences; Volume 24; Issue 4; Pages: 4003
مصطلحات موضوعية: rapid whole genome sequencing, rWGS, critically ill newborn, NICU, NICU-Seq, Dragen, Base Space Sequence Hub
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms24044003Test
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9دورية أكاديمية
المؤلفون: Caleb P. Bupp, Elizabeth G. Ames, Madison K. Arenchild, Sara Caylor, David P. Dimmock, Joseph D. Fakhoury, Padmani Karna, April Lehman, Cristian I. Meghea, Vinod Misra, Danielle A. Nolan, Jessica O’Shea, Aditi Sharangpani, Linda S. Franck, Andrea Scheurer-Monaghan
المصدر: Children; Volume 10; Issue 1; Pages: 106
مصطلحات موضوعية: rapid whole genome sequencing, genetics, genomics, pediatrics, hospital medicine, medical technology and advancement, reimbursement, quality improvement
وصف الملف: application/pdf
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10دورية أكاديمية
المؤلفون: Makenzie Beaman, Kimberley Fisher, Marie McDonald, Queenie K. G. Tan, David Jackson, Benjamin T. Cocanougher, Andrew P. Landstrom, Charlotte A. Hobbs, Michael Cotten, Jennifer L. Cohen
المصدر: Journal of Personalized Medicine, Vol 12, Iss 11, p 1924 (2022)
مصطلحات موضوعية: genome sequencing, neonatology, rapid diagnosis, rapid whole genome sequencing, precision medicine, medical genetics, Medicine
وصف الملف: electronic resource