Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug by Janet Ling, Wai Lan Yeung, Kam Lun Hon, Ivan F. M. Lo, Ho-Ming Luk, Cheuk Wing Fung, Alexander K. C. Leung

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Gene conversion in incontinentia pigmenti: a Chinese case series by Lai Ting Leung, Stephanie Ho, Pui Tak Kris Yu, Tsz Shun Myth Mok, Fai Man Ivan Lo, Sze Wing Shirley Cheng, Ho Ming Luk

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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

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Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development by Yuenshan Sammi Wong, Yuenshan Sammi Wong, Ho Ming Luk, Ho Chung Yau, Lap Ming Wong, Sarah Wing Yiu Poon, Joanna Yuet Ling Tung, Yuk Him Tam, Yuk Him Tam

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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

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