نتائج البحث - Ashley Andrews

Navigating social determinants of health barriers in the management of phenylketonuria حسب Ashley Andrews, Kate McMinimee

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IoT Device Identification Techniques: A Comparative Analysis for Security Practitioners حسب Ashley Andrews, George Oikonomou, Simon Armour, Paul Thomas, Thomas Cattermole

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Sports Nutrition Knowledge among Mid-Major Division I University Student-Athletes حسب Ashley Andrews, Janet R. Wojcik, Joni M. Boyd, Charles J. Bowers

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

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

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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 حسب Makenzie Fulmer, Matt Velinder, Ashley Andrews, Russell Butterfield, Rong Mao, Kourtney Santucci, Lorenzo Botto, Pinar Bayrak-Toydemir

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P784: Novel de novo KAT6A variant in a pediatric patient with multisystem involvement حسب Chaofan Zhang, John O'Shea, Erin Baldwin, Ashley Andrews, Steven Boyden, Thomas Nicholas, Lorenzo Botto, Rong Mao, Pinar Bayrak-Toydemir

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

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O56: The value of cytogenetics in the age of genome sequencing حسب Malia Olson, Erin Baldwin, Erica Andersen, Steven Boyden, David Viskochil, Hannah Anderson, Pinar Bayrak-Toydemir, Rong Mao, Ashley Andrews, Lorenzo Botto, Undiagnosed Diseases Network

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P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability حسب Jan Verheijen, John O'Shea, Steven Boyden, Thomas Nicholas, Erin Baldwin, Ashley Andrews, Lorenzo Botto, David Viskochil, Russell Butterfield, Pinar Bayrak-Toydemir, Rong Mao

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P708: Investigating the diagnostic yield of long read sequencing in a selected cohort of families with undiagnosed disease حسب John O'Shea, Robert Lewis, Alexandra Rangel, Brendan O'Fallon, Andrew Dixon, Christina Glenzel, Megan Hirschi, Erica Clyde, Undiagnosed Diseases Network, Erin Baldwin, Ashley Andrews, Lorenzo Botto, Pinar Bayrak-Toydemir, Rong Mao

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P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders حسب Robert Lewis, Ting Wen, John O'Shea, Jian Zhao, Steven Boyden, Caleb Hocutt, Erin Baldwin, Jennie Vagher, Ashley Andrews, Thomas Nicholas, Alexander Chapin, Elaine Fan, Jessica Meznarich, David Viskochil, Lorenzo Botto, Pinar Bayrak-Toydemir, Rong Mao

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Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing حسب Ting Wen, Steven E. Boyden, Caleb M. Hocutt, Robert G. Lewis, Erin E. Baldwin, Jennie Vagher, Ashley Andrews, Thomas J. Nicholas, Alexander Chapin, Elaine M. Fan, Lorenzo D. Botto, Pinar Bayrak-Toydemir, Rong Mao, Jessica A. Meznarich

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O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges حسب 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

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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 حسب 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

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