Showing 1 - 3 results of 3 for search 'Steven Boyden', query time: 0.01s Refine Results
  1. 1
    P784: Novel de novo KAT6A variant in a pediatric patient with multisystem involvement

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

    Published 2025-01-01
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  2. 2
    P785: Premature termination codon variants in CHD1 and SF3B2 in a complex pedigree with phenotypic variability

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

    Published 2025-01-01
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  3. 3
    P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders

    P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders by 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

    Published 2025-01-01
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