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EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Cohen JL, Schrier Vergano SA, Mazzola S, Strong A, Keena B, McDougall C, Ritter A, Li D, Bedoukian EC, Burke LW, Hoffman A, Zurcher V, Krantz ID, Izumi K, Bhoj E, Zackai EH, Deardorff MA. Cohen JL, et al. Among authors: zackai eh. Am J Med Genet A. 2020 Dec;182(12):2926-2938. doi: 10.1002/ajmg.a.61883. Epub 2020 Oct 11. Am J Med Genet A. 2020. PMID: 33043588
Neuropsychiatry of 18q- syndrome.
Mahr RN, Moberg PJ, Overhauser J, Strathdee G, Kamholz J, Loevner LA, Campbell H, Zackai EH, Reber ME, Mozley DP, Brown L, Turetsky BI, Shapiro RM. Mahr RN, et al. Among authors: zackai eh. Am J Med Genet. 1996 Apr 9;67(2):172-8. doi: 10.1002/(SICI)1096-8628(19960409)67:2<172::AID-AJMG7>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8723044
Lateral meningocele syndrome: three new patients and review of the literature.
Gripp KW, Scott CI Jr, Hughes HE, Wallerstein R, Nicholson L, States L, Bason LD, Kaplan P, Zderic SA, Duhaime AC, Miller F, Magnusson MR, Zackai EH. Gripp KW, et al. Among authors: zackai eh. Am J Med Genet. 1997 Jun 13;70(3):229-39. Am J Med Genet. 1997. PMID: 9188658 Review.
658 results