Hwu WL - Search Results

1

Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification.

Huang CH, Chang YY, Chen CH, Kuo YS, Hwu WL, Gerdes T, Ko TM. Huang CH, et al. Among authors: hwu wl. Genet Med. 2007 Apr;9(4):241-8. doi: 10.1097/gim.0b013e31803d35bc. Genet Med. 2007. PMID: 17438389 Free article.

2

Correlation of survival motor neuron expression in leukocytes and spinal cord in spinal muscular atrophy.

Tsai LK, Yang CC, Ting CH, Su YN, Hwu WL, Li H. Tsai LK, et al. Among authors: hwu wl. J Pediatr. 2009 Feb;154(2):303-5. doi: 10.1016/j.jpeds.2008.08.050. J Pediatr. 2009. PMID: 19150680

3

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening.

Chien YH, Chiang SC, Weng WC, Lee NC, Lin CJ, Hsieh WS, Lee WT, Jong YJ, Ko TM, Hwu WL. Chien YH, et al. Among authors: hwu wl. J Pediatr. 2017 Nov;190:124-129.e1. doi: 10.1016/j.jpeds.2017.06.042. Epub 2017 Jul 12. J Pediatr. 2017. PMID: 28711173 Clinical Trial.

4

CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening.

Weng WC, Hsu YK, Chang FM, Lin CY, Hwu WL, Lee WT, Lee NC, Chien YH. Weng WC, et al. Among authors: hwu wl. Genet Med. 2021 Feb;23(2):415-420. doi: 10.1038/s41436-020-00987-w. Epub 2020 Oct 9. Genet Med. 2021. PMID: 33033402 Free article.

5

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

6

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

7

Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan.

Chien YH, Hwu WL, Ariga T, Chang KW, Yang YH, Lin KH, Chiang BL. Chien YH, et al. Among authors: hwu wl. J Microbiol Immunol Infect. 2004 Oct;37(5):276-81. J Microbiol Immunol Infect. 2004. PMID: 15497008

8

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

9

KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3.

Lin LK, Chien YH, Wu JY, Wang AH, Chiang SC, Hwu WL. Lin LK, et al. Among authors: hwu wl. Mol Vis. 2005 Apr 1;11:245-8. Mol Vis. 2005. PMID: 15827546 Free article.

10

Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants.

Yeh JN, Jeng YM, Chen HL, Ni YH, Hwu WL, Chang MH. Yeh JN, et al. Among authors: hwu wl. J Pediatr. 2006 May;148(5):642-6. doi: 10.1016/j.jpeds.2005.12.020. J Pediatr. 2006. PMID: 16737877

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