Hsiao KJ - Search Results

1

Study of restriction fragment length polymorphisms at the human phenylalanine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria in Chinese.

Chen SH, Hsiao KJ, Lin LH, Liu TT, Tang RB, Su TS. Chen SH, et al. Among authors: hsiao kj. Hum Genet. 1989 Feb;81(3):226-30. doi: 10.1007/BF00278993. Hum Genet. 1989. PMID: 2563988

2

Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.

Chen KJ, Chao HK, Hsiao KJ, Su TS. Chen KJ, et al. Among authors: hsiao kj. Hum Genet. 2002 Mar;110(3):235-43. doi: 10.1007/s00439-002-0677-7. Epub 2002 Feb 5. Hum Genet. 2002. PMID: 11935335

3

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

Liang Y, Huang MZ, Cheng CY, Chao HK, Fwu VT, Chiang SH, Hsiao KJ, Niu DM, Su TS. Liang Y, et al. Among authors: hsiao kj. J Hum Genet. 2014 Mar;59(3):145-52. doi: 10.1038/jhg.2013.136. Epub 2014 Jan 9. J Hum Genet. 2014. PMID: 24401910

4

Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

Liu TT, Hsiao KJ, Lu SF, Wu SJ, Wu KF, Chiang SH, Liu XQ, Chen RG, Yu WM. Liu TT, et al. Among authors: hsiao kj. Hum Mutat. 1998;11(1):76-83. doi: 10.1002/(SICI)1098-1004(1998)11:1<76::AID-HUMU12>3.0.CO;2-W. Hum Mutat. 1998. PMID: 9450907

5

A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria.

Chao HK, Hsiao KJ, Su TS. Chao HK, et al. Among authors: hsiao kj. Hum Genet. 2001 Jan;108(1):14-9. doi: 10.1007/s004390000435. Hum Genet. 2001. PMID: 11214902

6

Identification of a missense phenylketonuria mutation at codon 408 in Chinese.

Lin CH, Hsiao KJ, Tsai TF, Chao HK, Su TS. Lin CH, et al. Among authors: hsiao kj. Hum Genet. 1992 Aug;89(6):593-6. doi: 10.1007/BF00221944. Hum Genet. 1992. PMID: 1355066

7

DNA polymorphisms and deletion analysis of the Duchenne-Becker muscular dystrophy gene in the Chinese.

Soong BW, Tsai TF, Su CH, Kao KP, Hsiao KJ, Su TS. Soong BW, et al. Among authors: hsiao kj. Am J Med Genet. 1991 Mar 15;38(4):593-600. doi: 10.1002/ajmg.1320380419. Am J Med Genet. 1991. PMID: 1676564

8

Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians.

Tsai TF, Hsiao KJ, Su TS. Tsai TF, et al. Among authors: hsiao kj. Hum Genet. 1990 Apr;84(5):409-11. doi: 10.1007/BF00195810. Hum Genet. 1990. PMID: 2323773

9

Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.

Liu TT, Hsiao KJ. Liu TT, et al. Among authors: hsiao kj. Hum Genet. 1996 Sep;98(3):313-6. doi: 10.1007/s004390050213. Hum Genet. 1996. PMID: 8707300

10

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.

Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, Lei L, Kawabe K, Taura S, Yang Y, Liu TT, Chiang SH, Hsiao KJ, Lau YL, Tsui LC, Lee DH, Saheki T. Lu YB, et al. Among authors: hsiao kj. J Hum Genet. 2005;50(7):338-346. doi: 10.1007/s10038-005-0262-8. Epub 2005 Jul 30. J Hum Genet. 2005. PMID: 16059747

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