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Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.
Epilepsia. 2010 Sep;51(9):1870-3. doi: 10.1111/j.1528-1167.2010.02555.x.
Epilepsia. 2010.
PMID: 20384727
Free article.
Comprehensive analysis of candidate genes for photosensitivity using a complementary bioinformatic and experimental approach.
von Spiczak S, Finsterwalder K, Muhle H, Franke A, Schilhabel M, Stephani U, Helbig I.
von Spiczak S, et al. Among authors: finsterwalder k.
Epilepsia. 2011 Oct;52(10):e143-7. doi: 10.1111/j.1528-1167.2011.03197.x. Epub 2011 Aug 29.
Epilepsia. 2011.
PMID: 21883175
Free article.
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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S.
Lemke JR, et al. Among authors: finsterwalder k.
Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11.
Nat Genet. 2013.
PMID: 23933819
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