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De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.
Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J. Torres A, et al. Among authors: lincoln sh. Mol Genet Metab Rep. 2018 Jun 15;16:23-29. doi: 10.1016/j.ymgmr.2018.06.001. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 29922587 Free PMC article.
Social cognitive impairment in 22q11 deletion syndrome: A review.
Norkett EM, Lincoln SH, Gonzalez-Heydrich J, D'Angelo EJ. Norkett EM, et al. Among authors: lincoln sh. Psychiatry Res. 2017 Jul;253:99-106. doi: 10.1016/j.psychres.2017.01.103. Epub 2017 Feb 23. Psychiatry Res. 2017. PMID: 28364592 Review.
30 results