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A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW. Blackburn PR, et al. Among authors: misra vk. J Biol Chem. 2017 Mar 3;292(9):3866-3876. doi: 10.1074/jbc.M116.770545. Epub 2017 Jan 5. J Biol Chem. 2017. PMID: 28057753 Free PMC article.
A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome.
Chand MT, Turner S, Solomon LA, Jay A, Rabah R, Misra VK. Chand MT, et al. Among authors: misra vk. J Pediatr Adolesc Gynecol. 2020 Oct;33(5):577-580. doi: 10.1016/j.jpag.2020.06.008. Epub 2020 Jun 19. J Pediatr Adolesc Gynecol. 2020. PMID: 32565348 Free article.
Case 3: A 10-year-old Boy with Saber Shins.
Fabie NAV, Misra VK. Fabie NAV, et al. Among authors: misra vk. Pediatr Rev. 2018 Oct;39(10):523-526. doi: 10.1542/pir.2017-0068. Pediatr Rev. 2018. PMID: 30275036 No abstract available.
Dermal melanocytosis: more than meets the eye.
Sidhu A, Misra VK. Sidhu A, et al. Among authors: misra vk. J Pediatr. 2014 Nov;165(5):1060. doi: 10.1016/j.jpeds.2014.06.016. Epub 2014 Jul 12. J Pediatr. 2014. PMID: 25027364 No abstract available.
90 results