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P585: Amplification-based nanopore sequencing accurately detects HBA and HBB SNVs, indels, and structural variants in clinical thalassemia samples by Jaime Lopes, Marcus Cannon, Jonathan Turner, Monica Roberts, Theodore Markulin, Christopher Fraher, Bryan Killinger, Stela Filipovic-Sadic, Bradley Hall
Published 2024-01-01
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A Genotype-Phenotype Study of High-Resolution <i>FMR1</i> Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments by Dejan B. Budimirovic, Annette Schlageter, Stela Filipovic-Sadic, Dragana D. Protic, Eran Bram, E. Mark Mahone, Kimberly Nicholson, Kristen Culp, Kamyab Javanmardi, Jon Kemppainen, Andrew Hadd, Kevin Sharp, Tatyana Adayev, Giuseppe LaFauci, Carl Dobkin, Lili Zhou, William Ted Brown, Elizabeth Berry-Kravis, Walter E. Kaufmann, Gary J. Latham
Published 2020-09-01
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