Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients

by Mandy H. Y. Tsang, Annie T. G. Chiu, Bernard M. H. Kwong, Rui Liang, Mullin H. C. Yu, Kit‐San Yeung, Wetor H. L. Ho, Christopher C. Y. Mak, Gordon K. C. Leung, Steven L. C. Pei, Jasmine L. F. Fung, Virginia C. N. Wong, Francesco Muntoni, Brian H. Y. Chung, Sophelia H. S. Chan
Published 2020-05-01

Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy

by Sophelia H. S. Chan FHKAM, Ivan F. M. Lo FHKAM, Sharon W. W. Cherk FHKAM, Wai Wai Cheng FHKAM, Eva L. W. Fung FHKAM, Wai Lan Yeung FHKAM, Mary Ngan FHKAM, Wing Cheong Lee FHKAM, Ling Kwong FHKAM, Suet Na Wong FHKAM, Che Kwan Ma FHKAM, Shuk Mui Tai FHKAM, Grace S. F. Ng FHKAM, Shun Ping Wu FHKAM, Virginia C. N. Wong FHKAM
Published 2015-05-01

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

by Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung
Published 2020-07-01