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Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome by Qiliang Ding, Zinandre Stander, Brandon J. Elizalde, Erica S. Stelmach, Jaime C. Duncan, Noemi Vidal-Folch, Linda Hasadsri, Kandelaria M. Rumilla, Wei Shen
Published 2025-04-01Get full text
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O61: Intragenic DMD duplications should not be presumed to be likely pathogenic: Findings from long-read sequencing by Qiliang (Andy) Ding, Jagadheshwar Balan, Noemi Vidal Folch, Angela Pickart, Jesse Walsh, Ramanath Majumdar, Eric Klee, Stephen Murphy, Devin Oglesbee, Ross Rowsey, Linda Hasadsri
Published 2025-01-01Get full text
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