Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Landau-Kleffner Syndrome and GRIN2A[original query] |
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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature genetics 2013 Sep 45 (9): 1067-72. Lemke Johannes R, Lal Dennis, Reinthaler Eva M, Steiner Isabelle, Nothnagel Michael, Alber Michael, Geider Kirsten, Laube Bodo, Schwake Michael, Finsterwalder Katrin, Franke Andre, Schilhabel Markus, Jähn Johanna A, Muhle Hiltrud, Boor Rainer, Van Paesschen Wim, Caraballo Roberto, Fejerman Natalio, Weckhuysen Sarah, De Jonghe Peter, Larsen Jan, Møller Rikke S, Hjalgrim Helle, Addis Laura, Tang Shan, Hughes Elaine, Pal Deb K, Veri Kadi, Vaher Ulvi, Talvik Tiina, Dimova Petia, Guerrero López Rosa, Serratosa José M, Linnankivi Tarja, Lehesjoki Anna-Elina, Ruf Susanne, Wolff Markus, Buerki Sarah, Wohlrab Gabriele, Kroell Judith, Datta Alexandre N, Fiedler Barbara, Kurlemann Gerhard, Kluger Gerhard, Hahn Andreas, Haberlandt D Edda, Kutzer Christina, Sperner Jürgen, Becker Felicitas, Weber Yvonne G, Feucht Martha, Steinböck Hannelore, Neophythou Birgit, Ronen Gabriel M, Gruber-Sedlmayr Ursula, Geldner Julia, Harvey Robert J, Hoffmann Per, Herms Stefan, Altmüller Janine, Toliat Mohammad R, Thiele Holger, Nürnberg Peter, Wilhelm Christian, Stephani Ulrich, Helbig Ingo, Lerche Holger, Zimprich Fritz, Neubauer Bernd A, Biskup Saskia, von Spiczak Sar |
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant. European journal of medical genetics 2022 4 65 (5): 104500. De Bernardi Margherita Lucia, Di Stazio Agnese, Romano Alfonso, Minardi Raffaella, Bisulli Francesca, Licchetta Laura, Aiello Salvatore, Carelli Valerio, Brunetti-Pierri Nicola, Cappuccio Gerarda, Terrone Gaeta |
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