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Page 1
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics; Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D. Mitani T, et al. Among authors: demiral e. Am J Hum Genet. 2021 Oct 7;108(10):1981-2005. doi: 10.1016/j.ajhg.2021.08.009. Epub 2021 Sep 28. Am J Hum Genet. 2021. PMID: 34582790 Free PMC article.
A rare mutation in the EPG5 gene causes Vici syndrome.
Demiral E, Sen A, Esener Z, Ceylaner S, Tekedereli I. Demiral E, et al. Clin Dysmorphol. 2018 Oct;27(4):145-147. doi: 10.1097/MCD.0000000000000233. Clin Dysmorphol. 2018. PMID: 29944490 No abstract available.
Competition and moral behavior: A meta-analysis of forty-five crowd-sourced experimental designs.
Huber C, Dreber A, Huber J, Johannesson M, Kirchler M, Weitzel U, Abellán M, Adayeva X, Ay FC, Barron K, Berry Z, Bönte W, Brütt K, Bulutay M, Campos-Mercade P, Cardella E, Claassen MA, Cornelissen G, Dawson IGJ, Delnoij J, Demiral EE, Dimant E, Doerflinger JT, Dold M, Emery C, Fiala L, Fiedler S, Freddi E, Fries T, Gasiorowska A, Glogowsky U, M Gorny P, Gretton JD, Grohmann A, Hafenbrädl S, Handgraaf M, Hanoch Y, Hart E, Hennig M, Hudja S, Hütter M, Hyndman K, Ioannidis K, Isler O, Jeworrek S, Jolles D, Juanchich M, Kc RP, Khadjavi M, Kugler T, Li S, Lucas B, Mak V, Mechtel M, Merkle C, Meyers EA, Mollerstrom J, Nesterov A, Neyse L, Nieken P, Nussberger AM, Palumbo H, Peters K, Pirrone A, Qin X, Rahal RM, Rau H, Rincke J, Ronzani P, Roth Y, Saral AS, Schmitz J, Schneider F, Schram A, Schudy S, Schweitzer ME, Schwieren C, Scopelliti I, Sirota M, Sonnemans J, Soraperra I, Spantig L, Steimanis I, Steinmetz J, Suetens S, Theodoropoulou A, Urbig D, Vorlaufer T, Waibel J, Woods D, Yakobi O, Yilmaz O, Zaleskiewicz T, Zeisberger S, Holzmeister F. Huber C, et al. Among authors: demiral ee. Proc Natl Acad Sci U S A. 2023 Jun 6;120(23):e2215572120. doi: 10.1073/pnas.2215572120. Epub 2023 May 30. Proc Natl Acad Sci U S A. 2023. PMID: 37252958 Free PMC article.
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J. Hotz A, et al. Among authors: demiral e. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 Free PMC article.