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1دورية أكاديميةP243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care
المؤلفون: Sabrina Malone-Jenkins, Brian Shayota, Chelsea Solorzano, Rachel Palmquist, Steven Boyden, Barry Moore, Thomas Nicholas, Rong Mao, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Najla Al-Sweel, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Eric Fredrickson, Kelsey Nicholson, David Pattison, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100271- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423002716Test; https://doaj.org/toc/2949-7744Test
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2دورية أكاديمية
المؤلفون: Barry Moore, Thomas Nicholas, Rong Mao, Brian Shayota, Steven Boyden, Chelsea Solorzano, Rachel Palmquist, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Eric Fredrickson, Kelsey Nicholson, David Pattison, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Betsy Ostrander, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky, Sabrina Malone-Jenkins
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100563- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423005630Test; https://doaj.org/toc/2949-7744Test
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3دورية أكاديمية
المؤلفون: Ting Wen, Hayley Reynolds, Andrew Farrell, Barry Moore, Steven Boyden, Thomas Nicholas, Shawn Rynearson, Carson Holt, Christine Miller, Katherine Noble, Dawn Bentley, Rachel Palmquist, Betsy Ostrander, Stephanie Manberg, Joshua Bonkowsky, Brian Shayota, Sabrina Malone-Jenkins, Pinar Bayrak-Toydemir, Rong Mao
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100632- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423006325Test; https://doaj.org/toc/2949-7744Test
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4دورية أكاديمية
المؤلفون: Thomas Nicholas, Andrew Farrell, Shawn Rynearson, Carson Holt, Steven Boyden, Barry Moore, Najla Al-Sweel, Christine Miller, Lucilla Pizzo, Chelsea Solorzano, Rachel Palmquist, Ashley Andrews, Rong Mao, Pinar Bayrak-Toydemir, Eric Fredrickson, Katherine Noble, Brian Shayota, Joshua Bonkowsky, John Carey, Sabrina Malone-Jenkins, Lorenzo Botto, Aaron Quinlan
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100730- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423007306Test; https://doaj.org/toc/2949-7744Test
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5دورية أكاديمية
المؤلفون: Thomas J. Nicholas, Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak‐Toydemir, Christine E. Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J. Hernandez, Michael J. Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua L. Bonkowsky, Martin Tristani‐Firouzi, Mark Yandell, Gabor Marth, Aaron R. Quinlan, Luca Brunelli, Reha M. Toydemir, Brian J. Shayota, John C. Carey, Steven E. Boyden, Sabrina Malone Jenkins
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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6دورية أكاديمية
المؤلفون: Alex H. Wagner, Lawrence Babb, Gil Alterovitz, Michael Baudis, Matthew Brush, Daniel L. Cameron, Melissa Cline, Malachi Griffith, Obi L. Griffith, Sarah E. Hunt, David Kreda, Jennifer M. Lee, Stephanie Li, Javier Lopez, Eric Moyer, Tristan Nelson, Ronak Y. Patel, Kevin Riehle, Peter N. Robinson, Shawn Rynearson, Helen Schuilenburg, Kirill Tsukanov, Brian Walsh, Melissa Konopko, Heidi L. Rehm, Andrew D. Yates, Robert R. Freimuth, Reece K. Hart
المصدر: Cell Genomics, Vol 1, Iss 2, Pp 100027- (2021)
مصطلحات موضوعية: variation, genomics, GA4GH, standard, VOCA, computed identifiers, Genetics, QH426-470, Internal medicine, RC31-1245
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666979X21000343Test; https://doaj.org/toc/2666-979XTest
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7دورية أكاديميةIntegrating precision medicine in the study and clinical treatment of a severely mentally ill person
المؤلفون: Jason A. O’Rawe, Han Fang, Shawn Rynearson, Reid Robison, Edward S. Kiruluta, Gerald Higgins, Karen Eilbeck, Martin G. Reese, Gholson J. Lyon
المصدر: PeerJ, Vol 1, p e177 (2013)
مصطلحات موضوعية: Genomics, Deep brain stimulation, Whole genome sequencing, Ethics, Neurosurgery, Obsessive compulsive disorder, Medicine, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://peerj.com/articles/177.pdfTest; https://peerj.com/articles/177Test/; https://doaj.org/toc/2167-8359Test
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8
المؤلفون: Hayley M, Reynolds, Ting, Wen, Andrew, Farrell, Rong, Mao, Barry, Moore, Steven E, Boyden, Pinar, Bayrak-Toydemir, Thomas J, Nicholas, Shawn, Rynearson, Carson, Holt, Christine, Miller, Katherine, Noble, Dawn, Bentley, Rachel, Palmquist, Betsy, Ostrander, Stephanie, Manberg, Joshua L, Bonkowsky, Brian J, Shayota, Sabrina Malone, Jenkins
المصدر: Cold Spring Harbor molecular case studies. 8(7)
مصطلحات موضوعية: Myasthenic Syndromes, Congenital, Phenotype, Synaptosomal-Associated Protein 25, Whole Genome Sequencing, Humans, Chromosome Mapping, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b121e8945c983c80ed67587e4307c717Test
https://pubmed.ncbi.nlm.nih.gov/36379720Test -
9
المؤلفون: Shawn Rynearson, Michael Baudis, Eric Moyer, Kirill Tsukanov, Malachi Griffith, Tristan Nelson, Sarah E. Hunt, Kevin Riehle, Reece K. Hart, Daniel L Cameron, Robert R. Freimuth, Ronak Y. Patel, Melissa S. Cline, Gil Alterovitz, Obi L. Griffith, Heidi L. Rehm, Lawrence J. Babb, Alex H. Wagner, David A. Kreda, Melissa A. Konopko, Jennifer M. Lee, Helen Schuilenburg, Andrew D. Yates, Matthew H. Brush, Stephanie Li, Peter N. Robinson, Javier Lopez, Brian Walsh
المصدر: Cell genomics. 1(2)
مصطلحات موضوعية: Identifier, Data sharing, Identification (information), Information retrieval, Information model, Flat file database, Data exchange, Computer science, Reference implementation, Terminology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a895b31fece94c5e300a86e7879dabTest
https://pubmed.ncbi.nlm.nih.gov/35311178Test -
10
المؤلفون: Shawn Rynearson, Koptiuch C, Michael T. Watkins, Berry T, Sama N, Karen Eilbeck, Kohlmann W
مصطلحات موضوعية: Expression (architecture), Computer science, business.industry, Artificial intelligence, business, computer.software_genre, computer, Natural language processing, Interpretation (model theory)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::914d1665273c33a9b1b908dbf36c461dTest
https://doi.org/10.22541/au.162261754.44560305/v1Test