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Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
Cho SY, Yoon YA, Ki CS, Huh HJ, Yoo HW, Lee BH, Kim GH, Yoo JH, Kim SY, Kim SJ, Sohn YB, Park SW, Huh R, Chang MS, Lee J, Kwun Y, Maeng SH, Jin DK. Cho SY, et al. Among authors: maeng sh. Exp Clin Endocrinol Diabetes. 2013 Oct;121(9):539-45. doi: 10.1055/s-0033-1349867. Epub 2013 Oct 14. Exp Clin Endocrinol Diabetes. 2013. PMID: 24127307
A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome.
Kim SJ, Cho SY, Maeng SH, Sohn YB, Kim SJ, Ki CS, Jin DK. Kim SJ, et al. Among authors: maeng sh. Korean J Pediatr. 2013 Aug;56(8):355-8. doi: 10.3345/kjp.2013.56.8.355. Epub 2013 Aug 27. Korean J Pediatr. 2013. PMID: 24019847 Free PMC article.
34 results