Hasil Pencarian - Lorenzo Botto

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  1. 1
    Toward Nanomechanical Models of Liquid-Phase Exfoliation of Layered 2D Nanomaterials: Analysis of a π − peel Model

    Toward Nanomechanical Models of Liquid-Phase Exfoliation of Layered 2D Nanomaterials: Analysis of a π − peel Model oleh Lorenzo Botto, Lorenzo Botto

    Diterbitkan 2019-11-01
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  2. 2
    Hydrodynamic slip can align thin nanoplatelets in shear flow

    Hydrodynamic slip can align thin nanoplatelets in shear flow oleh Catherine Kamal, Simon Gravelle, Lorenzo Botto

    Diterbitkan 2020-05-01
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  3. 3
    Editorial: Congenital anomalies: State of the art and the new paradigms for a precision public health approach

    Editorial: Congenital anomalies: State of the art and the new paradigms for a precision public health approach oleh Babak Khoshnood, Gareth Baynam, Maria Loane, Anke Rissmann, Lorenzo Botto

    Diterbitkan 2022-07-01
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  4. 4
    P321: Expanding the phenotypic spectrum of Currarino syndrome with cardiac anomalies

    P321: Expanding the phenotypic spectrum of Currarino syndrome with cardiac anomalies oleh Vanina Taliercio, Gulsen Akay, Pavalan Panneer Selvam, Lorenzo Botto, Hunter Underhill

    Diterbitkan 2023-01-01
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  5. 5
    Capillary Interaction and Self-Assembly of Tilted Magnetic Ellipsoidal Particles at Liquid Interfaces

    Capillary Interaction and Self-Assembly of Tilted Magnetic Ellipsoidal Particles at Liquid Interfaces oleh Bethany J. Newton, Rizwaan Mohammed, Gary B. Davies, Lorenzo Botto, D. Martin A. Buzza

    Diterbitkan 2018-11-01
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  6. 6
    Correction to “Capillary Interaction and Self-Assembly of Tilted Magnetic Ellipsoidal Particles at Liquid Interfaces”

    Correction to “Capillary Interaction and Self-Assembly of Tilted Magnetic Ellipsoidal Particles at Liquid Interfaces” oleh Bethany J. Newton, Rizwaan Mohammed, Gary B. Davies, Lorenzo Botto, D. Martin A. Buzza

    Diterbitkan 2019-05-01
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  7. 7
    P499: RNA-sequencing positional gene enrichment is a useful tool in resolving cases of X chromosome copy number variation

    P499: RNA-sequencing positional gene enrichment is a useful tool in resolving cases of X chromosome copy number variation oleh Robert Lewis, David Viskochil, Ashley Andrews, Karin Dent, Rong Mao, Lorenzo Botto, Pinar Bayrak-Toydemir

    Diterbitkan 2023-01-01
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  8. 8
    P524: Novel variants in EFL1 lead to a potential diagnosis of Shwachman-Diamond syndrome 2

    P524: Novel variants in EFL1 lead to a potential diagnosis of Shwachman-Diamond syndrome 2 oleh John O'Shea, Jian Zhao, Pinar Bayrak-Toydemir, David Viskochil, Ashley Andrews, Lorenzo Botto, Rong Mao

    Diterbitkan 2023-01-01
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  9. 9
    P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy

    P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy oleh Makenzie Fulmer, Matt Velinder, Ashley Andrews, Russell Butterfield, Rong Mao, Kourtney Santucci, Lorenzo Botto, Pinar Bayrak-Toydemir

    Diterbitkan 2023-01-01
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  10. 10
    P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq

    P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq oleh Jian Zhao, Nicola Longo, Robert Lewis, Thomas Nicholas, Steven Boyden, Ashley Andrews, Austin Larson, Pinar Bayrak-Toydemir, Lorenzo Botto, Rong Mao

    Diterbitkan 2023-01-01
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  11. 11
    P398: A rare report of a child with mosaic trisomy 4

    P398: A rare report of a child with mosaic trisomy 4 oleh Lauren Bartik, Elena Repnikova, Eric Rush, Jennifer Roberts, Erin Baldwin, John Carey, Lorenzo Botto, John O'Shea, Ting Wen, Pinar Bayrak-Toydemir, Rong Mao, Undiagnosed Diseases Network, Bonnie Sullivan

    Diterbitkan 2024-01-01
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  12. 12
    How Well Do ICD‐9‐CM Codes Predict True Congenital Heart Defects? A Centers for Disease Control and Prevention‐Based Multisite Validation Project

    How Well Do ICD‐9‐CM Codes Predict True Congenital Heart Defects? A Centers for Disease Control and Prevention‐Based Multisite Validation Project oleh Fred H. Rodriguez, Cheryl L. Raskind‐Hood, Trenton Hoffman, Sherry L. Farr, Jill Glidewell, Jennifer S. Li, Alfred D'Ottavio, Lorenzo Botto, Matthew R. Reeder, Daphne Hsu, George K. Lui, Anaclare M. Sullivan, Wendy M. Book

    Diterbitkan 2022-08-01
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  13. 13
    Racial and Ethnic Disparities in Health Care Usage and Death by Neighborhood Poverty Among Individuals With Congenital Heart Defects, 4 US Surveillance Sites, 2011 to 2013

    Racial and Ethnic Disparities in Health Care Usage and Death by Neighborhood Poverty Among Individuals With Congenital Heart Defects, 4 US Surveillance Sites, 2011 to 2013 oleh Cheryl L. Raskind‐Hood, Vijaya Kancherla, Lindsey C. Ivey, Fred H. Rodriguez, Anaclare M. Sullivan, George K. Lui, Lorenzo Botto, Marcia Feldkamp, Jennifer S. Li, Alfred D'Ottavio, Sherry L. Farr, Jill Glidewell, Wendy M. Book

    Diterbitkan 2024-06-01
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  14. 14
    Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization

    Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization oleh Tonya Di Sera, Matt Velinder, Alistair Ward, Yi Qiao, Stephanie Georges, Chase Miller, Anders Pitman, Will Richards, Aditya Ekawade, David Viskochil, John C. Carey, Laura Pace, Jim Bale, Stacey L. Clardy, Ashley Andrews, Lorenzo Botto, Gabor Marth

    Diterbitkan 2022-04-01
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  15. 15
    Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization

    Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization oleh Tonya Di Sera, Matt Velinder, Alistair Ward, Yi Qiao, Stephanie Georges, Chase Miller, Anders Pitman, Will Richards, Aditya Ekawade, David Viskochil, John C. Carey, Laura Pace, Jim Bale, Stacey L. Clardy, Ashley Andrews, Lorenzo Botto, Gabor Marth

    Diterbitkan 2021-10-01
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  16. 16
    O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges

    O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges oleh Robert Lewis, Makenzie Fulmer, Jian Zhao, Lucilla Pizzo, Ting Wen, John O'Shea, Thomas Nicholas, Steven Boyden, David Viskochil, Nicola Longo, Ashley Andrews, Erin Baldwin, Matt Velinder, Russell Butterfield, Karin Dent, Kourtney Santucci, Austin Larson, Rong Mao, Lorenzo Botto, Pinar Bayrak-Toydemir

    Diterbitkan 2024-01-01
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  17. 17
    P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines

    P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines oleh 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

    Diterbitkan 2023-01-01
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  18. 18
    Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits

    Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits oleh Paola Nicoletti, Samreen Zafer, Lital Matok, Inbar Irron, Meidva Patrick, Rotem Haklai, John Erol Evangelista, Giacomo B. Marino, Avi Ma’ayan, Anshuman Sewda, Greg Holmes, Sierra R. Britton, Won Jun Lee, Meng Wu, Ying Ru, Eric Arnaud, Lorenzo Botto, Lawrence C. Brody, Jo C. Byren, Michele Caggana, Suzan L. Carmichael, Deirdre Cilliers, Kristin Conway, Karen Crawford, Araceli Cuellar, Federico Di Rocco, Michael Engel, Jeffrey Fearon, Marcia L. Feldkamp, Richard Finnell, Sarah Fisher, Christian Freudlsperger, Gemma Garcia-Fructuoso, Rhinda Hagge, Yann Heuzé, Raymond J. Harshbarger, Charlotte Hobbs, Meredith Howley, Mary M. Jenkins, David Johnson, Cristina M. Justice, Alex Kane, Denise Kay, Arun Kumar Gosain, Peter Langlois, Laurence Legal-Mallet, Angela E. Lin, James L. Mills, Jenny E.V. Morton, Peter Noons, Andrew Olshan, John Persing, Julie M. Phipps, Richard Redett, Jennita Reefhuis, Elias Rizk, Thomas D. Samson, Gary M. Shaw, Robert Sicko, Nataliya Smith, David Staffenberg, Joan Stoler, Elizabeth Sweeney, Peter J. Taub, Andrew T. Timberlake, Jolanta Topczewska, Steven A. Wall, Alexander F. Wilson, Louise C. Wilson, Simeon A. Boyadjiev, Andrew O.M. Wilkie, Joan T. Richtsmeier, Ethylin Wang Jabs, Paul A. Romitti, David Karasik, Ramon Y. Birnbaum, Inga Peter

    Diterbitkan 2024-01-01
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