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Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis by Hsiao‐Jung Kao, Elin H. F. Wang, Erh‐Chan Yeh, Hsiao‐Huei Chen, Feng‐Jen Hsieh, Tsang‐Ming Ko, Wuh‐Liang Hwu, Pui‐Yan Kwok, Ni‐Chung Lee
Published 2025-06-01Get full text
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Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia by Meng-Ju Melody Tsai, Meng-Ju Melody Tsai, Hsiao-Jung Kao, Hsiao-Huei Chen, Chih-Hsiang Yu, Yin-Hsiu Chien, Wuh-Liang Hwu, Wuh-Liang Hwu, Wuh-Liang Hwu, Pui-Yan Kwok, Pui-Yan Kwok, Pui-Yan Kwok, Ni-Chung Lee, Yung-Li Yang, Yung-Li Yang, Yung-Li Yang
Published 2025-04-01Get full text
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