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P426: Biallelic pathogenic copy number variants in VPS13B resulting in Cohen syndrome by Cassandra Runke, Erik Thorland, Abigail Covington, Haley Dennis
Published 2025-01-01Get full text
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P743: What are you missing? A review of the utility of characterization studies as part of chromosomal microarray analysis by Sharri Cyrus, Kyna Byerly, Abigail Covington, Anna Essendrup, Elyse Mitchell, Cassandra Runke, Nicole Boczek, Cherisse Marcou, Ross Rowsey, Natasha Strande, Hutton Kearney, Erik Thorland, Nicole Hoppman
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P662: Clinical utility of exome and genome sequencing in an adult cohort referred for suspicion of underlying rare disease by Kristen Rasmussen, Marissa Ellingson, Sarah Barnett, Cassandra Runke, Lidija Gorsic, Thomas Jascur, Wei Shen, Natasha Strande, Nicole Hoppman, Ross Rowsey, Erik Thorland, Mayowa Osundiji, Judy Tejon, Kirk Barber, Ileana Trujillo, Sonia Sabrowsky, DeAnna Weaver, Matu Al-Amin, Cherisse Marcou, Nicole Boczek
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