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A fatal case of COQ7-associated primary coenzyme Q10 deficiency.
Kwong AK, Chiu AT, Tsang MH, Lun KS, Rodenburg RJT, Smeitink J, Chung BH, Fung CW. Kwong AK, et al. Among authors: tsang mh. JIMD Rep. 2019 Apr 3;47(1):23-29. doi: 10.1002/jmd2.12032. eCollection 2019 May. JIMD Rep. 2019. PMID: 31240163 Free PMC article.
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Yeung KS, Yu FNY, Fung CW, Wong S, Lee HHC, Fung STH, Fung GPG, Leung KY, Chung WH, Lee YT, Ng VKS, Yu MHC, Fung JLF, Tsang MHY, Chan KYK, Chan SHS, Kan ASY, Chung BHY. Yeung KS, et al. Mol Genet Genomic Med. 2020 Jul;8(7):e1229. doi: 10.1002/mgg3.1229. Epub 2020 Apr 30. Mol Genet Genomic Med. 2020. PMID: 32352246 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. Hum Genomics. 2020 Sep 10;14(1):28. doi: 10.1186/s40246-020-00278-0. Hum Genomics. 2020. PMID: 32907636 Free PMC article.
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Chung CCY, Leung GKC, Mak CCY, Fung JLF, Lee M, Pei SLC, Yu MHC, Hui VCC, Chan JCK, Chau JFT, Chan MCY, Tsang MHY, Wong WHS, Tung JYL, Lun KS, Ng YK, Fung CW, Wong MSC, Wong RMS, Lau YL, Chan GCF, Lee SL, Yeung KS, Chung BHY. Chung CCY, et al. Among authors: tsang mhy. Lancet Reg Health West Pac. 2020 Jul 24;1:100001. doi: 10.1016/j.lanwpc.2020.100001. eCollection 2020 Aug. Lancet Reg Health West Pac. 2020. PMID: 34327338 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34504102
31 results