Tsai CH - Search Results

1

Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family.

Tsai CH, Chang FC, Su YC, Tsai FJ, Lu MK, Lee CC, Kuo CC, Yang YW, Lu CS. Tsai CH, et al. Among authors: tsai fj. Neurology. 2004 Sep 14;63(5):893-6. doi: 10.1212/01.wnl.0000138566.65519.67. Neurology. 2004. PMID: 15365143

2

Polymorphisms of the parkin gene in sporadic Parkinson's disease among Chinese in Taiwan.

Hu CJ, Sung SM, Liu HC, Lee CC, Tsai CH, Chang JG. Hu CJ, et al. Among authors: tsai ch. Eur Neurol. 2000;44(2):90-3. doi: 10.1159/000008203. Eur Neurol. 2000. PMID: 10965160

3

Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations.

Tsai FJ, Lee CC, Wu MC, Lin SP, Lin CY, Tsai CH, Kodama H, Wu JY. Tsai FJ, et al. Among authors: tsai ch. Acta Paediatr Taiwan. 2001 Jul-Aug;42(4):231-5. Acta Paediatr Taiwan. 2001. PMID: 11550412

4

No association of alpha-2 macroglobulin gene five-nucleotide deletion with AD in Taiwan Chinese.

Hu CJ, Sung SM, Liu HC, Lee KY, Hsu WC, Wong WK, Lee CC, Tsai CH, Chang JG. Hu CJ, et al. Among authors: tsai ch. Neurology. 1999 Aug 11;53(3):642-3. doi: 10.1212/wnl.53.3.642. Neurology. 1999. PMID: 10449138

5

Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.

Tsai CH, Tsai FJ, Wu JY, Lin SP, Chang JG, Yang CF, Lee CC. Tsai CH, et al. Among authors: tsai fj. Hum Mutat. 1999 Dec;14(6):542. doi: 10.1002/(SICI)1098-1004(199912)14:6<542::AID-HUMU14>3.0.CO;2-3. Hum Mutat. 1999. PMID: 10571953

6

An R223P mutation in EXT2 gene causes hereditary multiple exostoses.

Shi YR, Wu JY, Tsai FJ, Lee CC, Tsai CH. Shi YR, et al. Among authors: tsai ch, tsai fj. Hum Mutat. 2000 Apr;15(4):390-1. doi: 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU35>3.0.CO;2-E. Hum Mutat. 2000. PMID: 10738008 No abstract available.

7

Carrier detection of Duchenne/Becker muscular dystrophy by using fluorescent linkage analysis in Taiwan.

Lee CC, Wu MC, Wu JY, Li TC, Tsai FJ, Tsai CH. Lee CC, et al. Among authors: tsai ch, tsai fj. Acta Paediatr Taiwan. 2000 Mar-Apr;41(2):69-74. Acta Paediatr Taiwan. 2000. PMID: 10927942

8

Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.

Lee CC, Wu JY, Tsai FJ, Kodama H, Abe T, Yang CF, Tsai CH. Lee CC, et al. Among authors: tsai ch, tsai fj. J Hum Genet. 2000;45(5):275-9. doi: 10.1007/s100380070015. J Hum Genet. 2000. PMID: 11043508

9

A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).

Wu MC, Tsai FJ, Lee CC, Tsai CH, Wu JY. Wu MC, et al. Among authors: tsai ch, tsai fj. Hum Mutat. 2000 Nov;16(5):447. doi: 10.1002/1098-1004(200011)16:5<447::AID-HUMU17>3.0.CO;2-M. Hum Mutat. 2000. PMID: 11058910 No abstract available.

10

A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis.

Tsai FJ, Yang C, Wu JY, Lin HJ, Lee CC, Tsai CH. Tsai FJ, et al. Among authors: tsai ch. Hum Mutat. 2000 Nov;16(5):449. doi: 10.1002/1098-1004(200011)16:5<449::AID-HUMU23>3.0.CO;2-R. Hum Mutat. 2000. PMID: 11058916 No abstract available.

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