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127 results

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COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR; Undiagnosed Diseases Network; Westerfield M, De Matteis MA, Lee B. Marom R, et al. Among authors: mehta nr. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26. Am J Hum Genet. 2021. PMID: 34450031 Free PMC article.
Jaundice and extreme hypercholesterolemia after a stroke.
Fred HL, Hariharan R, Doucet J, Mehta N. Fred HL, et al. Hosp Pract (1995). 1996 Sep 15;31(9):33-7. doi: 10.1080/21548331.1996.11443343. Hosp Pract (1995). 1996. PMID: 8814119 No abstract available.
Abbe Flap for Secondary Cleft Lip Deformity.
Davidson AL, Mehta NR, Curtis CM, Runyan CM. Davidson AL, et al. Among authors: mehta nr. J Craniofac Surg. 2024 Oct 11. doi: 10.1097/SCS.0000000000010711. Online ahead of print. J Craniofac Surg. 2024. PMID: 39392650
Histone proteoform analysis reveals epigenetic changes in adult mouse brown adipose tissue in response to cold stress.
Taylor BC, Steinthal LH, Dias M, Yalamanchili HK, Ochsner SA, Zapata GE, Mehta NR, McKenna NJ, Young NL, Nuotio-Antar AM. Taylor BC, et al. Among authors: mehta nr. bioRxiv [Preprint]. 2024 Jan 22:2023.07.30.551059. doi: 10.1101/2023.07.30.551059. bioRxiv. 2024. Update in: Epigenetics Chromatin. 2024 Apr 27;17(1):12. doi: 10.1186/s13072-024-00536-8 PMID: 38328142 Free PMC article. Updated. Preprint.
127 results