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Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.
Edmondson AC, Brown RJ, Kathiresan S, Cupples LA, Demissie S, Manning AK, Jensen MK, Rimm EB, Wang J, Rodrigues A, Bamba V, Khetarpal SA, Wolfe ML, Derohannessian S, Li M, Reilly MP, Aberle J, Evans D, Hegele RA, Rader DJ. Edmondson AC, et al. Among authors: bamba v. J Clin Invest. 2009 Apr;119(4):1042-50. doi: 10.1172/JCI37176. Epub 2009 Mar 16. J Clin Invest. 2009. PMID: 19287092 Free PMC article.
Peak cortisol response to corticotropin-releasing hormone is associated with age and body size in children referred for clinical testing: a retrospective review.
Vajravelu ME, Tobolski J, Burrows E, Chilutti M, Xiao R, Bamba V, Willi S, Palladino A, Burnham JM, McCormack SE. Vajravelu ME, et al. Among authors: bamba v. Int J Pediatr Endocrinol. 2015;2015:22. doi: 10.1186/s13633-015-0018-y. Epub 2015 Oct 22. Int J Pediatr Endocrinol. 2015. PMID: 26500680 Free PMC article.
Turner Syndrome: Care of the Patient: Birth to Late Adolescence.
Paolucci DG, Bamba V. Paolucci DG, et al. Among authors: bamba v. Pediatr Endocrinol Rev. 2017 Jun;14(Suppl 2):454-461. doi: 10.17458/per.vol14.2017.pb.turnersyndromecare. Pediatr Endocrinol Rev. 2017. PMID: 28647950 Review.
Hepatic abnormalities in youth with Turner syndrome.
Singh I, Noel G, Barker JM, Chatfield KC, Furniss A, Khanna AD, Nokoff NJ, Patel S, Pyle L, Nahata L, Cole FS, Ikomi C, Bamba V, Fechner PY, Davis SM. Singh I, et al. Among authors: bamba v. Liver Int. 2022 Oct;42(10):2237-2246. doi: 10.1111/liv.15358. Epub 2022 Jul 16. Liver Int. 2022. PMID: 35785515 Free PMC article.
Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric Network.
Huang SD, Bamba V, Bothwell S, Fechner PY, Furniss A, Ikomi C, Nahata L, Nokoff NJ, Pyle L, Seyoum H, Davis SM. Huang SD, et al. Among authors: bamba v. medRxiv [Preprint]. 2023 Jul 23:2023.07.19.23292889. doi: 10.1101/2023.07.19.23292889. medRxiv. 2023. Update in: Am J Med Genet A. 2024 Apr;194(4):e63495. doi: 10.1002/ajmg.a.63495 PMID: 37502850 Free PMC article. Updated. Preprint.
34 results