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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 10, 2023. (Total: 223917Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Mental Retardation and STXBP1[original query]
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
Annals of neurology 2009 Jun 65 (6): 748-53.
Hamdan Fadi F, Piton Amélie, Gauthier Julie, Lortie Anne, Dubeau François, Dobrzeniecka Sylvia, Spiegelman Dan, Noreau Anne, Pellerin Stéphanie, Côté Mélanie, Henrion Edouard, Fombonne Eric, Mottron Laurent, Marineau Claude, Drapeau Pierre, Lafrenière Ronald G, Lacaille Jean Claude, Rouleau Guy A, Michaud Jacques
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Lancet (London, England) 2012 Nov 380 (9854): 1674-82.
Rauch Anita, Wieczorek Dagmar, Graf Elisabeth, Wieland Thomas, Endele Sabine, Schwarzmayr Thomas, Albrecht Beate, Bartholdi Deborah, Beygo Jasmin, Di Donato Nataliya, Dufke Andreas, Cremer Kirsten, Hempel Maja, Horn Denise, Hoyer Juliane, Joset Pascal, Röpke Albrecht, Moog Ute, Riess Angelika, Thiel Christian T, Tzschach Andreas, Wiesener Antje, Wohlleber Eva, Zweier Christiane, Ekici Arif B, Zink Alexander M, Rump Andreas, Meisinger Christa, Grallert Harald, Sticht Heinrich, Schenck Annette, Engels Hartmut, Rappold Gudrun, Schröck Evelin, Wieacker Peter, Riess Olaf, Meitinger Thomas, Reis André, Strom Tim
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