Hasil Pencarian - Luca Brunelli

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  1. 1
    198 “Viviendas dinámicas sin deuda” en Valdivia, X Región, Chile

    198 “Viviendas dinámicas sin deuda” en Valdivia, X Región, Chile oleh Ana Bonet Miró, Luca Brunelli

    Diterbitkan 2007-06-01
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  2. 2
    Newborn sequencing is only part of the solution for better child health

    Newborn sequencing is only part of the solution for better child health oleh Luca Brunelli, Heeju Sohn, Amy Brower

    Diterbitkan 2023-09-01
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  3. 3
    Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States

    Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States oleh Kristen P. Fishler, Joshua C. Euteneuer, Luca Brunelli

    Diterbitkan 2022-03-01
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  4. 4
    Promoting children’s rights to health and well-being in the United States

    Promoting children’s rights to health and well-being in the United States oleh Audrey R. Chapman, Luca Brunelli, Lisa Forman, Joseph Kaempf

    Diterbitkan 2023-09-01
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  5. 5
    P890: A children’s rights framework for personalized medicine: Solutions to healthcare equity by pivoting to newborn screening and sequencing

    P890: A children’s rights framework for personalized medicine: Solutions to healthcare equity by pivoting to newborn screening and sequencing oleh Luca Brunelli, Kee Chan, James Tabery, Amy Brower, Warren Binford

    Diterbitkan 2024-01-01
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  6. 6
    Loop blow-up inflation

    Loop blow-up inflation oleh Sukṛti Bansal, Luca Brunelli, Michele Cicoli, Arthur Hebecker, Ruben Kuespert

    Diterbitkan 2024-07-01
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  7. 7
    A one-step miniprep for the isolation of plasmid DNA and lambda phage particles.

    A one-step miniprep for the isolation of plasmid DNA and lambda phage particles. oleh George Lezin, Yasuhiro Kosaka, H Joseph Yost, Michael R Kuehn, Luca Brunelli

    Diterbitkan 2011-01-01
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  8. 8
    P683: Comparative analysis of a targeted pharmacogenomics array panel and genome sequencing in a neonate on extracorporeal membrane oxygenation

    P683: Comparative analysis of a targeted pharmacogenomics array panel and genome sequencing in a neonate on extracorporeal membrane oxygenation oleh Anastasiya Mankouski, Nicholas Carr, Makenzie Fulmer, Seyi Falekun, Rong Mao, Luca Brunelli, Gwendolyn McMillin

    Diterbitkan 2024-01-01
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  9. 9
    P378: Inter-center variation in the availability and provision of genetic medicine services in Level IV NICUs*

    P378: Inter-center variation in the availability and provision of genetic medicine services in Level IV NICUs* oleh Bimal Chaudhari, Luca Brunelli, Katharine Callahan, Nahed ElHassan, Kristen Fishler, Semsa Gogcu, Karna Murthy, Jennifer Rumpel, Kristen Suhrie, Jennifer Wambach, Monica Wojcik

    Diterbitkan 2023-01-01
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  10. 10
    Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants

    Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants oleh Joseph Reiley, Pablo Botas, Christine E. Miller, Jian Zhao, Sabrina Malone Jenkins, Hunter Best, Peter H. Grubb, Rong Mao, Julián Isla, Luca Brunelli

    Diterbitkan 2023-06-01
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  11. 11
    Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

    Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning oleh Bennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin Rosales, Samuel Zoucha, Erica Sanford, Matthew N. Bainbridge, Erwin Frise, Albert Oriol, Luca Brunelli, Stephen F. Kingsmore, Mark Yandell

    Diterbitkan 2023-03-01
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  12. 12
    P202: Effectiveness of universal, first-tier genome sequencing for critically ill infants on extracorporeal membrane oxygenation

    P202: Effectiveness of universal, first-tier genome sequencing for critically ill infants on extracorporeal membrane oxygenation oleh Nicholas Carr, Luca Brunelli, Makenzie Fulmer, Jennifer Rumpel, Abhishek Makkar, Burhan Mahmood, Sarah Keene, Natalie Rintoul, K. Taylor Wild, Amir Ashrafi, Semsa Gogcu, Carrie Rau, David Pattison, Hunter Best, Steven Boyden, Rong Mao

    Diterbitkan 2024-01-01
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  13. 13
    Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program

    Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program oleh Sabrina Malone Jenkins, Rachel Palmquist, Ashley L. Kapron, Carrie Torr, D. Hunter Best, Mary Anne Karren, Luca Brunelli, Mark Yandell, Martin Tristani-Firouzi, David Dimmock, Brian Watts, Jeffrey R. Botkin, Ann Johnson, Joshua L. Bonkowsky

    Diterbitkan 2021-01-01
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  14. 14
    Health data space nodes for privacy-preserving linkage of medical data to support collaborative secondary analyses

    Health data space nodes for privacy-preserving linkage of medical data to support collaborative secondary analyses oleh Martin Baumgartner, Martin Baumgartner, Karl Kreiner, Aaron Lauschensky, Bernhard Jammerbund, Klaus Donsa, Dieter Hayn, Dieter Hayn, Fabian Wiesmüller, Fabian Wiesmüller, Fabian Wiesmüller, Lea Demelius, Lea Demelius, Robert Modre-Osprian, Sabrina Neururer, Sabrina Neururer, Gerald Slamanig, Sarah Prantl, Luca Brunelli, Bernhard Pfeifer, Bernhard Pfeifer, Gerhard Pölzl, Günter Schreier, Günter Schreier

    Diterbitkan 2024-04-01
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  15. 15
    Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

    Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants oleh Luca Brunelli, Sabrina M. Jenkins, James M. Gudgeon, Steven B. Bleyl, Christine E. Miller, Tatiana Tvrdik, Shale A. Dames, Betsy Ostrander, Josue A. F. Daboub, Brandon A. Zielinski, Erin K. Zinkhan, Hunter R. Underhill, Theodore Wilson, Joshua L. Bonkowsky, Christian C. Yost, Lorenzo D. Botto, Justin Jenkins, Theodore J. Pysher, Pinar Bayrak‐Toydemir, Rong Mao

    Diterbitkan 2019-07-01
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  16. 16
    Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

    Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One) oleh Amy Brower, Kee Chan, Marc Williams, Susan Berry, Robert Currier, Piero Rinaldo, Michele Caggana, Amy Gaviglio, William Wilcox, Robert Steiner, Ingrid A. Holm, Jennifer Taylor, Joseph J. Orsini, Luca Brunelli, Joanne Adelberg, Olaf Bodamer, Sarah Viall, Curt Scharfe, Melissa Wasserstein, Jin Y. Chen, Maria Escolar, Aaron Goldenberg, Kathryn Swoboda, Can Ficicioglu, Dieter Matern, Rachel Lee, Michael Watson

    Diterbitkan 2022-07-01
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  17. 17
    Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

    Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia oleh 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

    Diterbitkan 2022-04-01
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  18. 18
    P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2

    P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2 oleh 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

    Diterbitkan 2023-01-01
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  19. 19
    P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care

    P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care oleh 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

    Diterbitkan 2023-01-01
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