8 results for author:"Mak C.M." in Literature citations
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| Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients. Mak C.M., Chan K.Y., Yau E.K., Chen S.P., Siu W.K., Law C.Y., Lam C.W., Chan A.Y. Hong Kong Med J 17:500-502(2011) · Mapped (7) |
| Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors. Siu W.K., Law C.Y., Lam C.W., Mak C.M., Wong G.W., Ho A.Y., Ho K.Y., Loo K.T., Chiu S.C., Chow L.T. et al. Fam. Cancer 10:695-699(2011) · Mapped (2) |
| Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants. Mak C.M., Lam C.W., Fong N.C., Siu W.K., Lee H.C., Siu T.S., Lai C.K., Law C.Y., Tong S.F., Poon W.T. et al. J. Hum. Genet. 56:617-621(2011) · UniProtKB (1) · Mapped (1) |
| Molecular basis of von Hippel-Lindau syndrome in Chinese patients. Siu W.K., Ma R.C., Lam C.W., Mak C.M., Yuen Y.P., Lo F.M., Chan K.W., Lam S.F., Ling S.C., Tong S.F. et al. Chin. Med. J. 124:237-241(2011) · Mapped (3) |
| Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. Mak C.M., Lam C.W., Siu T.S., Chan K.Y., Siu W.K., Yeung W.L., Hui J., Wong V.C., Low L.C., Ko C.H. et al. Mol. Genet. Metab. 99:431-433(2010) · Mapped (19) |
| Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family. Chan K.Y., Ching C.K., Mak C.M., Lam C.W., Chan A.Y. Hong Kong Med J 15:304-307(2009) · Mapped (3) |
| Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese. Mak C.M., Kwong Y.L., Lam C.W., Chan S.C., Lo C.M., Fan S.T., Chang C.M., Lau Y.K., U L.S., Tam S. Amyloid 14:293-297(2007) · Mapped (6) |
| Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene. Mak C.M., Lam K.S., Tan K.C., Ma O.C., Tam S. Mol. Genet. Metab. 81:144-146(2004) · Mapped (1) |