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WCN24-1303 Molecular diagnostic yield for COL4A3/4/5 across clinical phenotypes suggestive of Alport Syndrome in 2 health systembased cohorts and a clinical cohort by Alexander Chang, Kyle Retterer, Karyn Murphy, Janewit Wongboonsin, Melissa Kelly, Erik Biros, Andrew Mallett, Matthew Sampson
Published 2024-04-01Get full text
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O30: Frequency of thoracic aortic aneurysm, dissection, and premature coronary artery disease in an unselected healthcare population receiving ACTA2 results by Kristen Yu, Kristy DiLoreto, Marc Williams, Scott LeMaire, Adam Buchanan, Juliann Savatt, Melissa Kelly
Published 2025-01-01Get full text
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P668: Assessing the utility of long-read genome sequencing in rare pediatric disorders by Liz Werren, Purva Vats, Gabriel Rech, Cameron King, Michael Peracchio, Elizabeth Charnysh, Peter Audano, Peter Robinson, Louisa Kalsner, Adam Matson, Melissa Kelly, Mark Adams
Published 2025-01-01Get full text
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Data sources on COVID-19 infection and vaccination in pregnancy on the island of Ireland: strengths, weaknesses, and recommendations for future pandemic preparedness [version 2; pe... by Richard A. Greene, Gillian M. Maher, Melissa Kelly, Julie Arnott, Joanne Given, Seamus Leonard, Helen Dolk, Ali S. Khashan, Mary T. O’Mahony, Mairéad Madigan, Maria Loane
Published 2025-03-01Get full text
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