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ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.
Xu M, Eblimit A, Wang J, Li J, Wang F, Zhao L, Wang X, Xiao N, Li Y, Wong LJ, Lewis RA, Chen R. Xu M, et al. Among authors: wong lj. Hum Mutat. 2016 Mar;37(3):246-9. doi: 10.1002/humu.22940. Epub 2016 Jan 6. Hum Mutat. 2016. PMID: 26662040 Free PMC article.
Diagnostic approaches to apparent homozygosity.
Landsverk ML, Douglas GV, Tang S, Zhang VW, Wang GL, Wang J, Wong LJ. Landsverk ML, et al. Among authors: wong lj. Genet Med. 2012 Oct;14(10):877-82. doi: 10.1038/gim.2012.58. Epub 2012 May 17. Genet Med. 2012. PMID: 22595940 Free article.
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ. Chanprasert S, et al. Among authors: wong lj, wong bl. Mol Genet Metab. 2013 Sep-Oct;110(1-2):153-61. doi: 10.1016/j.ymgme.2013.07.009. Epub 2013 Jul 17. Mol Genet Metab. 2013. PMID: 23932787
Molecular characterization of CPS1 deletions by array CGH.
Wang J, Shchelochkov OA, Zhan H, Li F, Chen LC, Brundage EK, Pursley AN, Schmitt ES, Häberle J, Wong LJ. Wang J, et al. Among authors: wong lj. Mol Genet Metab. 2011 Jan;102(1):103-6. doi: 10.1016/j.ymgme.2010.08.020. Epub 2010 Sep 19. Mol Genet Metab. 2011. PMID: 20855223 Free PMC article.
376 results