Hasil Pencarian - Stephen Kingsmore

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  1. 1
    Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy

    Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy oleh Sejal Kadakia, Lauge Farnaes, David Dimmock, Shimul Chowdhury, Yan Ding, Eric J. Anderson, Stephen Kingsmore, Ron S. Newfield

    Diterbitkan 2019-11-01
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  2. 2
    Temporal dynamics of host molecular responses differentiate symptomatic and asymptomatic influenza a infection.

    Temporal dynamics of host molecular responses differentiate symptomatic and asymptomatic influenza a infection. oleh Yongsheng Huang, Aimee K Zaas, Arvind Rao, Nicolas Dobigeon, Peter J Woolf, Timothy Veldman, N Christine Øien, Micah T McClain, Jay B Varkey, Bradley Nicholson, Lawrence Carin, Stephen Kingsmore, Stephen Kingsmore, Christopher W Woods, Geoffrey S Ginsburg, Alfred O Hero

    Diterbitkan 2011-08-01
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  3. 3
    Metabolomic derangements are associated with mortality in critically ill adult patients.

    Metabolomic derangements are associated with mortality in critically ill adult patients. oleh Angela J Rogers, Michael McGeachie, Rebecca M Baron, Lee Gazourian, Jeffrey A Haspel, Kiichi Nakahira, Laura E Fredenburgh, Gary M Hunninghake, Benjamin A Raby, Michael A Matthay, Ronny M Otero, Vance G Fowler, Emanuel P Rivers, Christopher W Woods, Stephen Kingsmore, Stephen Kingsmore, Ray J Langley, Augustine M K Choi

    Diterbitkan 2014-01-01
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  4. 4
    P610: Identification of trinucleotide repeat expansions in DMPK using rapid whole genome sequencing

    P610: Identification of trinucleotide repeat expansions in DMPK using rapid whole genome sequencing oleh Lucia Guidugli, Monia Hammer, Bryant Cao, Joseph Shen, Daniel Rito, Claire Botsford, David Chitayat, Jerica Lenberg, Kristen Wigby, Kelly Watkins, Stephen Kingsmore, Mari Tokita

    Diterbitkan 2024-01-01
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  5. 5
    Isolated Absent Aortic Valve: A Unique Fetal Case With Echocardiographic, Pathologic, and Genetic Correlation

    Isolated Absent Aortic Valve: A Unique Fetal Case With Echocardiographic, Pathologic, and Genetic Correlation oleh Eleanor L. Schuchardt, MD, Paul Grossfeld, MD, Stephen Kingsmore, MD, DSc, Yan Ding, MD, Lisa A. Vargas, RDCS, Dan A. Dyar, MA, RDCS, Arturo Mendoza, MD, Kirsten B. Dummer, MD

    Diterbitkan 2023-04-01
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  6. 6
    P156: Genomic disease contribution for unknown causes of infant mortality via genome sequencing of newborn dried blood spots and semiautomated interpretation*

    P156: Genomic disease contribution for unknown causes of infant mortality via genome sequencing of newborn dried blood spots and semiautomated interpretation* oleh Eric Ontiveros, Liana Protopsaltis, Rebecca Baer, Matthew Bainbridge, Bryant Cao, Yan Ding, Katarzyna (Kasia) Ellsworth, Laura Forero, Erwin Frise, Lucia Guidugli, YongHyun Kwon, Jennie Le, Scott Oltman, Mallory Owen, Erica Sanford Kobayashi, Lucita Van Der Kraan, Meredith Wright, Mark Yandell, Laura Jelliffe-Pawlowski, Gretchen Bandoli, Christina Chambers, Stephen Kingsmore

    Diterbitkan 2024-01-01
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  7. 7
    P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders*

    P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders* oleh Jennifer Schleit, Meredith Wright, Lauren Olsen, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Kevin Hall, Christian Hansen, Charlotte Hobbs, Mark Kiel, Chad Krilow, Chris Kunard, YongHyun Kwon, Rao Madhavrao, Shyamal Mehtalia, William Mowrey, Jennie Le, Jeremy Leipzig, Yupu Liang, Rebecca Mardach, Danny Oh, Mallory Owen, Liana Protopsaltis, Erica Sanford Kobayashi, Gunter Scharer, Brandon Schultz, Seth Shelnutt, Laurie Smith, Duke Tran, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Aaron Wolen, Mark Yandell, Thomas Defay, Stephen Kingsmore

    Diterbitkan 2024-01-01
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  8. 8
    3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma

    3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma oleh Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin Sikkink, Monika Mauermann, Edwin F. Juarez, Anne Jenseit, James T. Robinson, Kristian W. Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G. Coufal, Michael Levy, Denise Malicki, Charlotte Hobbs, Stephen Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J. Wechsler-Reya, Tom Belle Davidson, Jennifer Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A. Kumar, Michael D. Taylor, Jeremy Rich, Frank Buchholz, Jill P. Mesirov, Stefan M. Pfister, Ferhat Ay, Jesse R. Dixon, Marcel Kool, Lukas Chavez

    Diterbitkan 2023-04-01
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