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A novel deep intronic variant strongly associates with Alkaptonuria.
Lai CY, Tsai IJ, Chiu PC, Ascher DB, Chien YH, Huang YH, Lin YL, Hwu WL, Lee NC. Lai CY, et al. Among authors: hwu wl. NPJ Genom Med. 2021 Oct 22;6(1):89. doi: 10.1038/s41525-021-00252-2. NPJ Genom Med. 2021. PMID: 34686677 Free PMC article.
Cockayne syndrome in a family.
Chien YH, Chou HC, Hwu WL. Chien YH, et al. Among authors: hwu wl. Acta Paediatr Taiwan. 2002 Jan-Feb;43(1):46-9. Acta Paediatr Taiwan. 2002. PMID: 11890228
An infant with heart murmur and dysmorphic face.
Chien YH, Kuo PL, Hwu WL. Chien YH, et al. Among authors: hwu wl. Acta Paediatr Taiwan. 2002 Sep-Oct;43(5):241-3. Acta Paediatr Taiwan. 2002. PMID: 12607476 No abstract available.
410 results