Hwu WL - Search Results

1

Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype.

Tzeng CC, Tsai LP, Hwu WL, Lin SJ, Chao MC, Jong YJ, Chu SY, Chao WC, Lu CL. Tzeng CC, et al. Among authors: hwu wl. Am J Med Genet A. 2005 Feb 15;133A(1):37-43. doi: 10.1002/ajmg.a.30528. Am J Med Genet A. 2005. PMID: 15637705

2

Neonatal screening for congenital adrenal hyperplasia in Taiwan: a pilot study.

Chu SY, Tsai WY, Chen LH, Wei ML, Chien YH, Hwu WL. Chu SY, et al. Among authors: hwu wl. J Formos Med Assoc. 2002 Oct;101(10):691-4. J Formos Med Assoc. 2002. PMID: 12517042

3

Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan.

Chu SY, Chiang SC, Chien YH, Hwu WL. Chu SY, et al. Among authors: hwu wl. Acta Paediatr Taiwan. 2002 Nov-Dec;43(6):330-3. Acta Paediatr Taiwan. 2002. PMID: 12632786

4

Living-related liver transplantation for methylmalonic acidemia: report of one case.

Hsui JY, Chien YH, Chu SY, Lu FL, Chen HL, Ho MJ, Lee PH, Hwu WL. Hsui JY, et al. Among authors: hwu wl. Acta Paediatr Taiwan. 2003 May-Jun;44(3):171-3. Acta Paediatr Taiwan. 2003. PMID: 14521026

5

Maple syrup urine disease presenting with neonatal status epilepticus: report of one case.

Wang IJ, Chu SY, Wang CY, Wang PJ, Hwu WL. Wang IJ, et al. Among authors: hwu wl. Acta Paediatr Taiwan. 2003 Jul-Aug;44(4):246-8. Acta Paediatr Taiwan. 2003. PMID: 14674232

6

Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese.

Huang YT, Chien Y-, Yeh HY, Lin SJ, Lu FL, Chou SP, Lin JM, Chiang SC, Hwu WL. Huang YT, et al. Among authors: hwu wl. J Formos Med Assoc. 2003 Dec;102(12):851-6. J Formos Med Assoc. 2003. PMID: 14976564

7

A step-wise diagnosis of fragile X syndrome in Taiwan.

Huang YT, Chiang SC, Tzeng CC, Liu CH, Chien YH, Hwu WL. Huang YT, et al. Among authors: hwu wl. Acta Paediatr Taiwan. 2004 Mar-Apr;45(2):69-72. Acta Paediatr Taiwan. 2004. PMID: 15335113

8

Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: report of one case.

Hwu WL, Kuo PL, Hung YT, Chien YH, Chu SY. Hwu WL, et al. Acta Paediatr Taiwan. 2004 Mar-Apr;45(2):97-9. Acta Paediatr Taiwan. 2004. PMID: 15335120

9

Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations.

Wan L, Hsu CM, Tsai CH, Lee CC, Hwu WL, Tsai FJ. Wan L, et al. Among authors: hwu wl. Blood Cells Mol Dis. 2006 May-Jun;36(3):422-5. doi: 10.1016/j.bcmd.2006.02.001. Epub 2006 Mar 20. Blood Cells Mol Dis. 2006. PMID: 16546416

10

Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (ethnic Chinese) cohort of familial and early-onset parkinsonism.

Lin CH, Hwu WL, Chiang SC, Tai CH, Wu RM. Lin CH, et al. Among authors: hwu wl. Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):434-8. doi: 10.1002/ajmg.b.30427. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17440947

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