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Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
Chiu ATG, Pei SLC, Mak CCY, Leung GKC, Yu MHC, Lee SL, Vreeburg M, Pfundt R, van der Burgt I, Kleefstra T, Frederic TM, Nambot S, Faivre L, Bruel AL, Rossi M, Isidor B, Küry S, Cogne B, Besnard T, Willems M, Reijnders MRF, Chung BHY. Chiu ATG, et al. Clin Genet. 2018 Apr;93(4):880-890. doi: 10.1111/cge.13196. Epub 2018 Feb 13. Clin Genet. 2018. PMID: 29240241
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: chiu at. 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.
Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series.
Leung WY, Luk HM, Vardhanabhuti V, Gao Y, Hui KF, Lau WY, Young TPH, Li JTC, Fung ELW, Chiu ATG, Lo IFM, Chung BHY, Cheung YF, Chan SHS. Leung WY, et al. Among authors: chiu atg. Hong Kong Med J. 2021 Dec;27(6):444-449. doi: 10.12809/hkmj209001. Hong Kong Med J. 2021. PMID: 34949732 Free article. No abstract available.
104 results