Hui J - Search Results

1

A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients.

Law CY, Yeung WL, Cheung YF, Chan HF, Fung E, Hui J, Yung IO, Yuen YP, Chan AO, Lam CW. Law CY, et al. Among authors: hui j. Hong Kong Med J. 2016 Dec;22(6):619-22. doi: 10.12809/hkmj154579. Hong Kong Med J. 2016. PMID: 27920401 Free article. No abstract available.

2

Telemedicine conference on a 13-year-old Chinese girl with an unusual skeletal condition.

Hui J, Yeung WL, Wong G, Fok TF, Griffith J, Cheng JC, Hjelm M, Hall C, Shaw D. Hui J, et al. J Telemed Telecare. 1998;4(2):120-1. doi: 10.1258/1357633981931957. J Telemed Telecare. 1998. PMID: 9744169 No abstract available.

3

A Chinese girl with Leigh syndrome: effect of botulinum toxin on dystonia.

Leung TF, Hui J, Yeung WL, Goh K. Leung TF, et al. Among authors: hui j. J Paediatr Child Health. 1998 Oct;34(5):480-2. doi: 10.1046/j.1440-1754.1998.00275.x. J Paediatr Child Health. 1998. PMID: 9767517

4

Aplastic anaemia in association with Kearns-Sayre syndrome.

Leung TF, Hui J, Shoubridge E, Li CK, Chik KW, Shing MM, Wong GW, Yeung WL, Yuen PM. Leung TF, et al. Among authors: hui j. J Inherit Metab Dis. 1999 Feb;22(1):86-7. doi: 10.1023/a:1005415802893. J Inherit Metab Dis. 1999. PMID: 10070624 No abstract available.

5

Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.

Tang NL, Hui J, Law LK, Lam YY, Chan KY, Yeung WL, Chan AY, Cheung KL, Fok TF. Tang NL, et al. Among authors: hui j. Hum Mutat. 2000 Nov;16(5):446. doi: 10.1002/1098-1004(200011)16:5<446::AID-HUMU14>3.0.CO;2-Y. Hum Mutat. 2000. PMID: 11058907

6

Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.

Lam CW, Yeung WL, Ko CH, Poon PM, Tong SF, Chan KY, Lo IF, Chan LY, Hui J, Wong V, Pang CP, Lo YM, Fok TF. Lam CW, et al. Among authors: hui j. J Med Genet. 2000 Dec;37(12):E41. doi: 10.1136/jmg.37.12.e41. J Med Genet. 2000. PMID: 11106359 Free PMC article. No abstract available.

7

Diagnosing Wilson's disease in a 5-year-old child.

Hui J, Fung EL, Tang NL, Chan MH, To KF, Fok TF. Hui J, et al. J Paediatr Child Health. 2002 Aug;38(4):412-3. doi: 10.1046/j.1440-1754.2002.00023.x. J Paediatr Child Health. 2002. PMID: 12174008 No abstract available.

8

Red eyes as the initial presentation of systemic meningococcal infection.

Yeung WL, Yam KL, Chan WM, Hui J. Yeung WL, et al. Among authors: hui j. J Paediatr Child Health. 2003 Jul;39(5):390-1. doi: 10.1046/j.1440-1754.2003.00161.x. J Paediatr Child Health. 2003. PMID: 12887674

9

3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.

Law LK, Tang NL, Hui J, Lam CW, Fok TF. Law LK, et al. Among authors: hui j. J Inherit Metab Dis. 2003;26(7):705-9. doi: 10.1023/b:boli.0000005603.04633.21. J Inherit Metab Dis. 2003. PMID: 14707520

10

Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease.

Yeung WL, Lam CW, Hui J, Tong SF, Wu SP. Yeung WL, et al. Among authors: hui j. Brain Dev. 2006 Jul;28(6):389-91. doi: 10.1016/j.braindev.2005.10.012. Epub 2006 Jan 10. Brain Dev. 2006. PMID: 16376043

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