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Familial patellar dislocation and concomitant short stature due to a loss of function in ACAN gene detected by nanopore long-read sequencing by Lisa L. P. Siu, Henry C. M. Leung, Stephanie K. L. Ho, Shirley S. W. Cheng, Tak-wah Lam, Ivan F. M. Lo, Ho-ming Luk
Published 2025-08-01Get full text
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Identification of technically challenging variants: Whole-genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases by Hau-Yee Ng, Wei Ma, Wai-Kei J. Lam, Chak-Sing Lau, Ho-Ming Luk, Lisa W.C. Au, Shirley S.W. Cheng, Josephine S.C. Chong, Stephanie Ho, Becky M. Ma, Shirley Y.Y. Pang, Annie T.W. Chu, Brian H.Y. Chung
Published 2025-07-01Get full text
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