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Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V. Dauber A, et al. Among authors: moon je. J Clin Endocrinol Metab. 2012 Nov;97(11):E2140-51. doi: 10.1210/jc.2012-2150. Epub 2012 Aug 29. J Clin Endocrinol Metab. 2012. PMID: 22933543 Free PMC article.
Whole exome sequencing to identify genetic causes of short stature.
Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn JN, Dauber A. Guo MH, et al. Among authors: moon je. Horm Res Paediatr. 2014;82(1):44-52. doi: 10.1159/000360857. Epub 2014 Jun 20. Horm Res Paediatr. 2014. PMID: 24970356 Free PMC article. Clinical Trial.
Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.
Usher CL, Handsaker RE, Esko T, Tuke MA, Weedon MN, Hastie AR, Cao H, Moon JE, Kashin S, Fuchsberger C, Metspalu A, Pato CN, Pato MT, McCarthy MI, Boehnke M, Altshuler DM, Frayling TM, Hirschhorn JN, McCarroll SA. Usher CL, et al. Among authors: moon je. Nat Genet. 2015 Aug;47(8):921-5. doi: 10.1038/ng.3340. Epub 2015 Jun 22. Nat Genet. 2015. PMID: 26098870 Free PMC article.
Functional significance of single nucleotide polymorphisms in the lactase gene in diverse US patients and evidence for a novel lactase persistence allele at -13909 in those of European ancestry.
Baffour-Awuah NY, Fleet S, Montgomery RK, Baker SS, Butler JL, Campbell C, Tischfield S, Mitchell PD, Allende-Richter S, Moon JE, Fishman L, Bousvaros A, Fox V, Kuokkanen M, Grand RJ, Hirschhorn JN. Baffour-Awuah NY, et al. Among authors: moon je. J Pediatr Gastroenterol Nutr. 2015 Feb;60(2):182-91. doi: 10.1097/MPG.0000000000000595. J Pediatr Gastroenterol Nutr. 2015. PMID: 25625576 Free PMC article.
Cohort profile: Multicenter Networks for Ideal Outcomes of Rare Pediatric Endocrine and Metabolic Diseases in Korea (OUTSPREAD study).
Lee YJ, Cheon CK, Suh J, Moon JE, Ahn MB, Chang SH, Lee J, Choi JH, Kim M, Lim HH, Kim J, Kim SH, Lee HS, Lee Y, Kang E, Kim SY, Hong YH, Yang S, Han HS, Chung S, Cho WK, Kim EY, Kim JK, Shim KS, Yoo EG, Kim HS, Yang A, Kim S, Nam HK, Cho SY, Lee YA. Lee YJ, et al. Among authors: moon je. Ann Pediatr Endocrinol Metab. 2024 Dec;29(6):349-355. doi: 10.6065/apem.2448272.136. Epub 2024 Dec 31. Ann Pediatr Endocrinol Metab. 2024. PMID: 39778403 Free PMC article.
157 results