Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder

by Han-Chih Hencher Lee, Nike Kwai-Cheung Lau, Chun-Wing Yeung, Sui-Fun Grace Ng, Kin-Cheong Eric Yau, Chloe Miu Mak
Published 2018-01-01

Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy

by Bun Sheng, Ka Fai Yim, Lin Kiu Lau, Han Chih Hencher Lee, Ka Shun Samuel Fung, Ka Fai Johnny Ma, Wai Leung Chak
Published 2020-09-01