Showing 1 - 16 results of 16 for search 'Lorenzo Botto', query time: 0.08s
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Hydrodynamic slip can align thin nanoplatelets in shear flow by Catherine Kamal, Simon Gravelle, Lorenzo Botto
Published 2020-05-01
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P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy by Makenzie Fulmer, Matt Velinder, Ashley Andrews, Russell Butterfield, Rong Mao, Kourtney Santucci, Lorenzo Botto, Pinar Bayrak-Toydemir
Published 2023-01-01
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P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq by Jian Zhao, Nicola Longo, Robert Lewis, Thomas Nicholas, Steven Boyden, Ashley Andrews, Austin Larson, Pinar Bayrak-Toydemir, Lorenzo Botto, Rong Mao
Published 2023-01-01
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P398: A rare report of a child with mosaic trisomy 4 by 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
Published 2024-01-01
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How Well Do ICD‐9‐CM Codes Predict True Congenital Heart Defects? A Centers for Disease Control and Prevention‐Based Multisite Validation Project by 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
Published 2022-08-01
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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 by 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
Published 2024-06-01
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Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization by 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
Published 2022-04-01
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O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges by 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
Published 2024-01-01
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P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines by 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
Published 2023-01-01
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Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits by 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
Published 2024-01-01
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