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

الوصول الحر: https://escholarship.org/uc/item/289757jtTest
https://escholarship.org/content/qt289757jt/qt289757jt.pdfTest

المؤلفون: Schwahn, Bernd C, Scheffner, Thomas, Stepman, Hedwig, Verloo, Peter, Das, Anibh M, Fletcher, Janice, Blom, Henk J, Benoist, Jean‐Francois, Barshop, Bruce A, Barea, Jaime J, Feigenbaum, Annette

المصدر: JIMD reports. 52(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Neurosciences, Nutrition, Brain Disorders, Rare Diseases, CBS deficiency, adverse drug effect, betaine, brain edema, encephalopathy, homocystinuria, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4dd851kpTest

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

المؤلفون: Hou, Ying-Chen Claire, Yu, Hung-Chun, Martin, Rick, Cirulli, Elizabeth T., Schenker-Ahmed, Natalie M., Hicks, Michael, Cohen, Isaac V., Jönsson, Thomas J., Heister, Robyn, Napier, Lori, Swisher, Christine Leon, Dominguez, Saints, Tang, Haibao, Li, Weizhong, Perkins, Bradley A., Barea, Jaime, Rybak, Christina, Smith, Emily, Duchicela, Keegan, Doney, Michael, Brar, Pamila, Hernandez, Nathaniel, Kirkness, Ewen F., Kahn, Andrew M., Venter, J. Craig, Karow, David S., Caskey, C. Thomas

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Feb 01. 117(6), 3053-3062.

الوصول الحر: https://www.jstor.org/stable/26928753Test

المؤلفون: White, Susan M., Bhoj, Elizabeth, Nellåker, Christoffer, Lachmeijer, Augusta M.A., Marshall, Aren E., Boycott, Kym M., Li, Dong, Smith, Wendy, Hartley, Taila, McBride, Arran, Ernst, Michelle E., May, Alison S., Wieczorek, Dagmar, Abou Jamra, Rami, Koch-Hogrebe, Margarete, Õunap, Katrin, Pajusalu, Sander, van Gassen, K.L.I., Sadedin, Simon, Ellingwood, Sara, Tan, Tiong Yang, Christodoulou, John, Barea, Jaime, Lockhart, Paul J., Nezarati, Marjan M., Kernohan, Kristin D.

المساهمون: National Human Genome Research Institute, Ontario Genomics Institute, Estonian Research Competency Council

المصدر: The American Journal of Human Genetics ; volume 108, issue 4, page 749-756 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.03.007Test
https://api.elsevier.com/content/article/PII:S0002929721000914?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929721000914?httpAccept=text/plainTest

المؤلفون: Schwahn, Bernd C., Scheffner, Thomas, Stepman, Hedwig, Verloo, Peter, Das, Anibh M, Fletcher, Janice, Blom, Henk J, Benoist, Jean‐Francois, Barshop, Bruce A., Barea, Jaime J., Feigenbaum, Annette

المصدر: Journal of Inherited Metabolic Disease Reports; Mar2020, Vol. 52 Issue 1, p3-10, 8p

المؤلفون: Ying-Chen Claire Hou, Hung-Chun Yu, Martin, Rick, Cirulli, Elizabeth T., Schenker-Ahmed, Natalie M., Hicks, Michael, Cohen, Isaac V., Jönsson, Thomas J., Heister, Robyn, Napier, Lori, Swisher, Christine Leon, Dominguez, Saints, Haibao Tang, Weizhong Li, Perkins, Bradley A., Barea, Jaime, Rybak, Christina, Smith, Emily, Duchicela, Keegan, Doney, Michael

المصدر: Proceedings of the National Academy of Sciences of the United States of America; 2/11/2020, Vol. 117 Issue 6, p3053-3062, 10p

مصطلحات موضوعية: INDIVIDUALIZED medicine, METABOLOMICS, ENDOCRINE diseases, BURDEN of care, DIAGNOSIS

المؤلفون: Barea, Jaime J., van Meel, Eline, Kornfeld, Stuart, Bird, Lynne M.

المساهمون: National Institutes of Health

المصدر: American Journal of Medical Genetics Part A ; volume 167, issue 11, page 2844-2846 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.37213Test

المؤلفون: Rodríguez Dager, Luz Gabriela, Barquet Guillen, Alberto Antuan, Espinoza Varas, Carlos Antonio, Jaramillo Barea, Jaime Andrés, Saavedra Abad, María Auxiliadora, Vásquez Paredes, María Isabel, Vélez Froment, Irene María

المساهمون: Balda, Andrea, Sosa Leiva, Andrés, abalda@casagrande.edu.ec

مصطلحات موضوعية: PODCAST, PAP, DOCUMENTAL

وصف الملف: application/pdf; 62 p.

العلاقة: Tesis;862; Rodríguez Dager, Luz G.; Barquet Guillen, Alberto A.; Espinoza Varas, Carlos A.; Jaramillo Barea, Jaime A.; Saavedra Abad, María A.; Vásquez Paredes, María I.; Vélez Froment, Irene M. (2015). Desarrollo de la marca para uso en medio digital. Trabajo final para la obtención del Título Licenciado en Diseño Gráfico y Comunicación Visual. Universidad Casa Grande. Facultad Mónica Herrera, Guayaquil. 62 p.; http://dspace.casagrande.edu.ec:8080/handle/ucasagrande/587Test

الإتاحة: http://dspace.casagrande.edu.ec:8080/handle/ucasagrande/587Test

المؤلفون: Jaramillo Barea, Jaime Andrés

المساهمون: Balda, Andrea, Sosa, Andrés, abalda@casagrande.edu.ec

مصطلحات موضوعية: PODCAST, PAP, TECNOLOGÍAS DE LA INFORMACIÓN Y LA COMUNICACIÓN, ENSEÑANZA SUPERIOR

وصف الملف: application/pdf; 100 p.

العلاقة: Tesis;807; Jaramillo Barea, Jaime Andrés (2014). Inside Podcast Universitario. Manual de marca 2014. Universidad Casa Grande. Facultad de Administración y Ciencias Políticas. 100 p.; http://dspace.casagrande.edu.ec:8080/handle/ucasagrande/549Test

الإتاحة: http://dspace.casagrande.edu.ec:8080/handle/ucasagrande/549Test