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ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B, Distelmaier F, Haack TB. Laugwitz L, et al. Among authors: distelmaier f. Brain. 2024 Jul 5;147(7):2471-2482. doi: 10.1093/brain/awae058. Brain. 2024. PMID: 38386308 Free PMC article.
Status epilepticus due to attempted suicide with isoniazid.
Tibussek D, Mayatepek E, Distelmaier F, Rosenbaum T. Tibussek D, et al. Among authors: distelmaier f. Eur J Pediatr. 2006 Feb;165(2):136-7. doi: 10.1007/s00431-005-0007-x. Epub 2005 Oct 7. Eur J Pediatr. 2006. PMID: 16211398 No abstract available.
145 results