Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation

by Annie Ting Gee Chiu MBBS(HK), MRCPCH, Sophelia Hoi Shan Chan MBBS(HK), FHKAM(Paed), FHKCPaed, Shun Ping Wu MBBS, (HK), FHKAM(Paed), FHKCPaed, Shun Hin Ting MBBS, (HK), FHKCPath, FHKAM(Path), Brian Hon Yin Chung MBBS, (Hons), FHKAM(Paed), FHKCPaed, Angel On Kei Chan MD, FRCPA, FHKCPath, FHKAM(Path), Virginia Chun Nei Wong MBBS(HK), FHKAM(Paed), FHKCPaed
Published 2018-04-01

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

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

by Mandy H.Y. Tsang, Anna K.Y. Kwong, Kate L.S. Chan, Jasmine L.F. Fung, Mullin H.C. Yu, Christopher C.Y. Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jan A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Shelia S.N Wong, Shuk-Mui Tai, Victor C.M. Chan, Che-Kwan Ma, Sharon T.H. Fung, Shun-Ping Wu, W.K. Chak, Brian H.Y. Chung, Cheuk-Wing Fung
Published 2020-09-01

Exome sequencing in paediatric patients with movement disorders

by Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau, Shuk-Mui Tai, Eva Lai-Wah Fung, Nick Shun-Ping Wu, Li-Yan Tsung, Jan Smeitink, Brian Hon-Yin Chung, Cheuk-Wing Fung
Published 2021-01-01