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De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, Zweier C. Gregor A, et al. Among authors: gerstner t. Hum Mol Genet. 2022 Feb 3;31(3):440-454. doi: 10.1093/hmg/ddab265. Hum Mol Genet. 2022. PMID: 34505148 Free PMC article.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Zhang Y, Tachtsidis G, Schob C, Koko M, Hedrich UBS, Lerche H, Lemke JR, van Haeringen A, Ruivenkamp C, Prescott T, Tveten K, Gerstner T, Pruniski B, DiTroia S, VanNoy GE, Rehm HL, McLaughlin H, Bolz HJ, Zechner U, Bryant E, McDonough T, Kindler S, Bähring R. Zhang Y, et al. Among authors: gerstner t. Hum Mol Genet. 2021 Nov 16;30(23):2300-2314. doi: 10.1093/hmg/ddab192. Hum Mol Genet. 2021. PMID: 34245260 Free PMC article.
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
Knaus A, Kortüm F, Kleefstra T, Stray-Pedersen A, Đukić D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM. Knaus A, et al. Among authors: gerstner t. Am J Hum Genet. 2019 Aug 1;105(2):395-402. doi: 10.1016/j.ajhg.2019.06.009. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353022 Free PMC article.
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD; Care4Rare Canada Consortium; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Ren D, Yoon G. Stray-Pedersen A, et al. Among authors: gerstner t. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17. Am J Hum Genet. 2016. PMID: 26708751 Free PMC article.
Valproic acid-induced hepatopathy: nine new fatalities in Germany from 1994 to 2003.
Koenig SA, Buesing D, Longin E, Oehring R, Häussermann P, Kluger G, Lindmayer F, Hanusch R, Degen I, Kuhn H, Samii K, Jungck A, Brückner R, Seitz R, Boxtermann W, Weber Y, Knapp R, Richard HH, Weidner B, Kasper JM, Haensch CA, Fitzek S, Hartmann M, Borusiak P, Müller-Deile A, Degenhardt V, Korenke GC, Hoppen T, Specht U, Gerstner T. Koenig SA, et al. Among authors: gerstner t. Epilepsia. 2006 Dec;47(12):2027-31. doi: 10.1111/j.1528-1167.2006.00846.x. Epilepsia. 2006. PMID: 17201699 Free article.
Valproic acid induced encephalopathy--19 new cases in Germany from 1994 to 2003--a side effect associated to VPA-therapy not only in young children.
Gerstner T, Buesing D, Longin E, Bendl C, Wenzel D, Scheid B, Goetze G, Macke A, Lippert G, Klostermann W, Mayer G, Augspach-Hofmann R, Fitzek S, Haensch CA, Reuland M, Koenig SA. Gerstner T, et al. Seizure. 2006 Sep;15(6):443-8. doi: 10.1016/j.seizure.2006.05.007. Epub 2006 Jun 19. Seizure. 2006. PMID: 16787750 Free article.
48 results