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Exome sequencing in paediatric patients with movement disorders.
Kwong AK, Tsang MH, Fung JL, Mak CC, Chan KL, Rodenburg RJT, Lek M, Huang S, Pajusalu S, Yau MM, Tsoi C, Fung S, Liu KT, Ma CK, Wong S, Yau EK, Tai SM, Fung EL, Wu NS, Tsung LY, Smeitink J, Chung BH, Fung CW. Kwong AK, et al. Orphanet J Rare Dis. 2021 Jan 15;16(1):32. doi: 10.1186/s13023-021-01688-6. Orphanet J Rare Dis. 2021. PMID: 33446253 Free PMC article.
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Tsang MHY, Kwong AKY, Chan KLS, Fung JLF, Yu MHC, Mak CCY, Yeung KS, Rodenburg RJT, Smeitink JAM, Chan R, Tsoi T, Hui J, Wong SSN, Tai SM, Chan VCM, Ma CK, Fung STH, Wu SP, Chak WK, Chung BHY, Fung CW. Tsang MHY, et al. Among authors: chan kls. Hum Genomics. 2020 Sep 10;14(1):28. doi: 10.1186/s40246-020-00278-0. Hum Genomics. 2020. PMID: 32907636 Free PMC article.