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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Zhang LX, et al. Among authors: nair km. Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19. Genet Med. 2020. PMID: 32424177 Free PMC article. Review.
Perspective: When the cure might become the malady: the layering of multiple interventions with mandatory micronutrient fortification of foods in India.
Kurpad AV, Ghosh S, Thomas T, Bandyopadhyay S, Goswami R, Gupta A, Gupta P, John AT, Kapil U, Kulkarni B, Kuriyan R, Madan J, Makkar S, Nair KM, Pullakhandam R, Reddy GB, Shah D, Sachdev HS. Kurpad AV, et al. Among authors: nair km. Am J Clin Nutr. 2021 Oct 4;114(4):1261-1266. doi: 10.1093/ajcn/nqab245. Am J Clin Nutr. 2021. PMID: 34320172 Free article.
The Effects of a Single Freeze-Thaw Cycle on Concentrations of Nutritional, Noncommunicable Disease, and Inflammatory Biomarkers in Serum Samples.
Abraham RA, Rana G, Agrawal PK, Johnston R, Sarna A, Ramesh S, Acharya R, Khan N, Porwal A, Kurundkar SB, Pandey A, Pullakhandam R, Nair KM, Kumar GT, Sachdev H, Kapil U, Deb S, Wagt A, Khera A, Ramakrishnan L. Abraham RA, et al. Among authors: nair km. J Lab Physicians. 2021 Mar;13(1):6-13. doi: 10.1055/s-0041-1726575. Epub 2021 May 24. J Lab Physicians. 2021. PMID: 34054235 Free PMC article.
98 results