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Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing
Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing
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Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing

RICHTER, Julia ; SCHLESNER, Matthias ; LENZE, Dido ; SZCZEPANOWSKI, Monika ; PAULSEN, Maren ; LIPINSKI, Simone ; RUSSELL, Robert B ; ADAM-KLAGES, Sabine ; APIC, Gordana ; CLAVIEZ, Alexander ; HASENCLEVER, Dirk ; HOVESTADT, Volker ; HOFFMANN, Steve ; HORNIG, Nadine ; KORBEL, Jan O ; KUBE, Dieter ; LANGENBERGER, David ; LAWERENZ, Chris ; LISFELD, Jasmin ; MEYER, Katharina ; PICELLI, Simone ; PISCHIMAROV, Jordan ; RADLWIMMER, Bernhard ; KREUZ, Markus ; RAUSCH, Tobias ; ROHDE, Marius ; SCHILHABEL, Markus ; SCHOLTYSIK, René ; SPANG, Rainer ; TRAUTMANN, Heiko ; ZENZ, Thorsten ; BORKHARDT, Arndt ; DREXLER, Hans G ; MÖLLER, Peter ; LEICH, Ellen ; MACLEOD, Roderick A. F ; POTT, Christiane ; SCHREIBER, Stefan ; TRÜMPER, Lorenz ; LOEFFLER, Markus ; STADLER, Peter F ; LICHTER, Peter ; EILS, Roland ; KÜPPERS, Ralf ; HUMMEL, Michael ; BURKHARDT, Birgit ; KLAPPER, Wolfram ; ROSENSTIEL, Philip ; ROSENWALD, Andreas ; BRORS, Benedikt ; SIEBERT, Reiner ; ROSOLOWSKI, Maciej ; AMMERPOHL, Ole ; WAGENER, Rabea ; BERNHART, Stephan H

Nature genetics, 2012-12, Vol.44 (12), p.1316-1320 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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2
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Syrbe, Steffen ; Hedrich, Ulrike B S ; Riesch, Erik ; Djémié, Tania ; Müller, Stephan ; Møller, Rikke S ; Maher, Bridget ; Hernandez-Hernandez, Laura ; Synofzik, Matthis ; Caglayan, Hande S ; Arslan, Mutluay ; Serratosa, José M ; Nothnagel, Michael ; May, Patrick ; Krause, Roland ; Löffler, Heidrun ; Detert, Katja ; Dorn, Thomas ; Vogt, Heinrich ; Krämer, Günter ; Schöls, Ludger ; Mullis, Primus E ; Linnankivi, Tarja ; Lehesjoki, Anna-Elina ; Sterbova, Katalin ; Craiu, Dana C ; Hoffman-Zacharska, Dorota ; Korff, Christian M ; Weber, Yvonne G ; Steinlin, Maja ; Gallati, Sabina ; Bertsche, Astrid ; Bernhard, Matthias K ; Merkenschlager, Andreas ; Kiess, Wieland ; Gonzalez, Michael ; Züchner, Stephan ; Palotie, Aarno ; Suls, Arvid ; De Jonghe, Peter ; Helbig, Ingo ; Biskup, Saskia ; Wolff, Markus ; Maljevic, Snezana ; Schüle, Rebecca ; Sisodiya, Sanjay M ; Weckhuysen, Sarah ; Lerche, Holger ; Lemke, Johannes R

Nature genetics, 2015-04, Vol.47 (4), p.393-399 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

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, Sarah

Nature genetics, 2013-09, Vol.45 (9), p.1067-1072 [Periódico revisado por pares]

United States: Nature Publishing Group

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