Mak CM - Search Results

1

Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors.

Siu WK, Law CY, Lam CW, Mak CM, Wong GW, Ho AY, Ho KY, Loo KT, Chiu SC, Chow LT, Tong SF, Chan AY. Siu WK, et al. Among authors: mak cm. Fam Cancer. 2011 Dec;10(4):695-9. doi: 10.1007/s10689-011-9466-6. Fam Cancer. 2011. PMID: 21732217

2

Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.

Chan KY, Ching CK, Mak CM, Lam CW, Chan AY. Chan KY, et al. Among authors: mak cm. Hong Kong Med J. 2009 Aug;15(4):304-7. Hong Kong Med J. 2009. PMID: 19652243 Free article.

3

Mutational analysis for Wilson's disease.

Seto WK, Mak CM, But D, Hung I, Lam CW, Tam S, Yuen MF, Lai CL. Seto WK, et al. Among authors: mak cm. Lancet. 2009 Aug 22;374(9690):662. doi: 10.1016/S0140-6736(09)60915-6. Lancet. 2009. PMID: 19700008 Free article. No abstract available.

4

Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II.

Lee HC, Lai CK, Siu TS, Yuen YP, Chan KY, Chan AY, Tam S, Mak CM, Lam CW. Lee HC, et al. Among authors: mak cm. Diagn Mol Pathol. 2010 Sep;19(3):184-6. doi: 10.1097/PDM.0b013e3181c9a8a8. Diagn Mol Pathol. 2010. PMID: 20736750

5

Molecular basis of von Hippel-Lindau syndrome in Chinese patients.

Siu WK, Ma RC, Lam CW, Mak CM, Yuen YP, Lo FM, Chan KW, Lam SF, Ling SC, Tong SF, So WY, Chow CC, Tang MH, Tam WH, Chan AY. Siu WK, et al. Among authors: mak cm. Chin Med J (Engl). 2011 Jan;124(2):237-41. Chin Med J (Engl). 2011. PMID: 21362373

6

Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong.

Lee HC, Mak CM, Lam CW, Yuen YP, Chan AO, Shek CC, Siu TS, Lai CK, Ching CK, Siu WK, Chen SP, Law CY, Tai HL, Tam S, Chan AY. Lee HC, et al. Among authors: mak cm. Chin Med J (Engl). 2011 Apr;124(7):983-9. Chin Med J (Engl). 2011. PMID: 21542954

7

Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.

Mak CM, Lam CW, Fong NC, Siu WK, Lee HC, Siu TS, Lai CK, Law CY, Tong SF, Poon WT, Lam DS, Ng HL, Yuen YP, Tam S, Que TL, Kwong NS, Chan AY. Mak CM, et al. J Hum Genet. 2011 Aug;56(8):617-21. doi: 10.1038/jhg.2011.63. Epub 2011 Jun 23. J Hum Genet. 2011. PMID: 21697855

8

Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China.

Mak CM, Ko CH, Lam CW, Lau WL, Siu WK, Chen SP, Law CY, Lai CK, Yu CM, Chan AY. Mak CM, et al. Chin Med J (Engl). 2011 Aug;124(16):2556-8. Chin Med J (Engl). 2011. PMID: 21933604

9

Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study.

Lee HC, Lai CK, Yau KC, Siu TS, Mak CM, Yuen YP, Chan KY, Tam S, Lam CW, Chan AY. Lee HC, et al. Among authors: mak cm. Clin Chim Acta. 2012 Jan 18;413(1-2):126-30. doi: 10.1016/j.cca.2011.09.008. Epub 2011 Sep 21. Clin Chim Acta. 2012. PMID: 21963339

10

Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients.

Mak CM, Chan KY, Yau EK, Chen SP, Siu WK, Law CY, Lam CW, Chan AY. Mak CM, et al. Hong Kong Med J. 2011 Dec;17(6):500-2. Hong Kong Med J. 2011. PMID: 22147323 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

127 results

Search Page