Esteves KM - Search Results

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Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Thaker VV, et al. Among authors: esteves km. J Clin Endocrinol Metab. 2015 May;100(5):1723-30. doi: 10.1210/jc.2014-4215. Epub 2015 Mar 17. J Clin Endocrinol Metab. 2015. PMID: 25781356 Free PMC article.

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, Beggs AH, Berry GT, Agrawal PB. Joshi M, et al. Among authors: esteves km. Eur J Hum Genet. 2014 Oct;22(10):1229-32. doi: 10.1038/ejhg.2014.8. Epub 2014 Feb 19. Eur J Hum Genet. 2014. PMID: 24549054 Free PMC article.

Nonimmune Hydrops and Left-Sided Cardiac Defect: Prenatal Presentation of Kabuki Syndrome.

Esteves KM, Yang W, Abi Habib P, Janaitis A, Turan S. Esteves KM, et al. Neoreviews. 2024 Jun 1;25(6):e385-e391. doi: 10.1542/neo.25-6-e385. Neoreviews. 2024. PMID: 38821912 No abstract available.

The value of detailed first-trimester ultrasound in the era of noninvasive prenatal testing.

Esteves KM, Tugarinov N, Lechmann G, Abi Habib P, Cagliyan E, Goetzinger KR, Turan OM, Turan S. Esteves KM, et al. Am J Obstet Gynecol. 2023 Sep;229(3):326.e1-326.e6. doi: 10.1016/j.ajog.2023.05.031. Epub 2023 Jun 2. Am J Obstet Gynecol. 2023. PMID: 37271433

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