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Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program; Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paine I, et al. Among authors: hui j. Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256877 Free PMC article.
Aplastic anaemia in association with Kearns-Sayre syndrome.
Leung TF, Hui J, Shoubridge E, Li CK, Chik KW, Shing MM, Wong GW, Yeung WL, Yuen PM. Leung TF, et al. Among authors: hui j. J Inherit Metab Dis. 1999 Feb;22(1):86-7. doi: 10.1023/a:1005415802893. J Inherit Metab Dis. 1999. PMID: 10070624 No abstract available.
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
Mak CM, Lam CW, Tam S, Lai CL, Chan LY, Fan ST, Lau YL, Lai JY, Yuen P, Hui J, Fu CC, Wong KS, Mak WL, Tze K, Tong SF, Lau A, Leung N, Hui A, Cheung KM, Ko CH, Chan YK, Ma O, Chau TN, Chiu A, Chan YW. Mak CM, et al. Among authors: hui j, hui a. J Hum Genet. 2008;53(1):55-63. doi: 10.1007/s10038-007-0218-2. Epub 2007 Nov 22. J Hum Genet. 2008. PMID: 18034201
1,641 results