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P670: Clinical features and molecular findings of a rare case of LGMDR18 by Poh-San Lai, Chandra Bharatendu, Moon Ley Tung, Grace Tan, CP Liu, Josiah Chai, Stacey KH Tay
Published 2025-01-01Get full text
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Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation seque... by Jorge Alfredo Bevilacqua, Abdullah Mohammed Al-Salti, Abubaker Al Madani, Armando Alves da Fonseca, Hacer Durmus, Josiah Chai, Ali Alshehri, Márcia Gonçalves Ribeiro, Paulo Sgobbi, Sergey S. Nikitin, Steven Vargas, Adriana Furtado, Nathan Thibault, Roberto Araujo, Nadia Daba
Published 2024-11-01Get full text
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