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Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
Min BJ, Kim N, Chung T, Kim OH, Nishimura G, Chung CY, Song HR, Kim HW, Lee HR, Kim J, Kang TH, Seo ME, Yang SD, Kim DH, Lee SB, Kim JI, Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ. Min BJ, et al. Among authors: kim hw, kim ji, kim dh, kim d, kim n, kim oh, kim j. Am J Hum Genet. 2011 Dec 9;89(6):760-6. doi: 10.1016/j.ajhg.2011.10.015. Am J Hum Genet. 2011. PMID: 22152677 Free PMC article.
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
Kim OH, Park H, Seong MW, Cho TJ, Nishimura G, Superti-Furga A, Unger S, Ikegawa S, Choi IH, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Oh CW, Jeong C, Song KS, Seo SG, Cho SI, Yeo IK, Kim SY, Park S, Park SS. Kim OH, et al. Among authors: kim hw, kim sy. Am J Med Genet A. 2011 Nov;155A(11):2669-80. doi: 10.1002/ajmg.a.34246. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21965141
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
Kaname T, Ki CS, Niikawa N, Baillie GS, Day JP, Yamamura K, Ohta T, Nishimura G, Mastuura N, Kim OH, Sohn YB, Kim HW, Cho SY, Ko AR, Lee JY, Kim HW, Ryu SH, Rhee H, Yang KS, Joo K, Lee J, Kim CH, Cho KH, Kim D, Yanagi K, Naritomi K, Yoshiura K, Kondoh T, Nii E, Tonoki H, Houslay MD, Jin DK. Kaname T, et al. Among authors: kim hw, kim ch, kim d, kim oh. Cell Signal. 2014 Nov;26(11):2446-59. doi: 10.1016/j.cellsig.2014.07.025. Epub 2014 Jul 24. Cell Signal. 2014. PMID: 25064455 Clinical Trial.
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.
Bae JS, Kim NK, Lee C, Kim SC, Lee HR, Song HR, Park KB, Kim HW, Lee SH, Kim HY, Lee SC, Jeong C, Park MS, Yoo WJ, Chung CY, Choi IH, Kim OH, Park WY, Cho TJ. Bae JS, et al. Among authors: kim hw, kim sc, kim hy, kim oh, kim nk. Genet Med. 2016 Jun;18(6):563-9. doi: 10.1038/gim.2015.129. Epub 2015 Sep 24. Genet Med. 2016. PMID: 26402641 Free article.
A new classification for idiopathic genu vara.
Joo SY, Park HW, Park KB, Kim BS, Park JS, Kim HW. Joo SY, et al. Among authors: kim hw, kim bs. Yonsei Med J. 2007 Oct 31;48(5):833-8. doi: 10.3349/ymj.2007.48.5.833. Yonsei Med J. 2007. PMID: 17963342 Free PMC article.
3,584 results