caa a22 4500 445364777 CHVBK 20180317142926.0 cr unu---uuuuu 170323e20110501xx s 000 0 eng 10.1007/s10048-011-0277-6 doi (NATIONALLICENCE)springer-10.1007/s10048-011-0277-6 Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features [Elektronische Daten] [Nils Rademacher, Melanie Hambrock, Ute Fischer, Bettina Moser, Berten Ceulemans, Wolfgang Lieb, Rainer Boor, Irina Stefanova, Gabriele Gillessen-Kaesbach, Charlotte Runge, Georg Korenke, Stefanie Spranger, Franco Laccone, Andreas Tzschach, Vera Kalscheuer] Springer-Verlag, 2011 CDKL5 nationallicence Rett syndrome nationallicence Seizures nationallicence Infantile spasms nationallicence Rademacher Nils Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195, Berlin, Germany aut Hambrock Melanie Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195, Berlin, Germany aut Fischer Ute Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195, Berlin, Germany aut Moser Bettina Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195, Berlin, Germany aut Ceulemans Berten Department of Neurology-Child Neurology, University of Antwerp, Antwerp, Belgium aut Lieb Wolfgang Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany aut Boor Rainer Klinik für Neuropädiatrie, Universitätsklinikum Schleswig-Holstein, Campus, Kiel, Germany aut Stefanova Irina Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany aut Gillessen-Kaesbach Gabriele Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany aut Runge Charlotte Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany aut Korenke Georg Department of Neuropediatrics, Children's Hospital, Oldenburg, Germany aut Spranger Stefanie Praxis für Humangenetik, Bremen, Germany aut Laccone Franco Department of Medical Genetics, Medical University of Vienna, Vienna, Austria aut Tzschach Andreas Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195, Berlin, Germany aut Kalscheuer Vera Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195, Berlin, Germany aut neurogenetics Springer-Verlag 12/2(2011-05-01), 165-167 1364-6745 12:2<165 2011 12 10048 https://doi.org/10.1007/s10048-011-0277-6 text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-011-0277-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Rademacher Nils Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195, Berlin, Germany aut NATIONALLICENCE 700 1- Hambrock Melanie Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195, Berlin, Germany aut NATIONALLICENCE 700 1- Fischer Ute Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195, Berlin, Germany aut NATIONALLICENCE 700 1- Moser Bettina Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195, Berlin, Germany aut NATIONALLICENCE 700 1- Ceulemans Berten Department of Neurology-Child Neurology, University of Antwerp, Antwerp, Belgium aut NATIONALLICENCE 700 1- Lieb Wolfgang Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany aut NATIONALLICENCE 700 1- Boor Rainer Klinik für Neuropädiatrie, Universitätsklinikum Schleswig-Holstein, Campus, Kiel, Germany aut NATIONALLICENCE 700 1- Stefanova Irina Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany aut NATIONALLICENCE 700 1- Gillessen-Kaesbach Gabriele Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany aut NATIONALLICENCE 700 1- Runge Charlotte Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany aut NATIONALLICENCE 700 1- Korenke Georg Department of Neuropediatrics, Children's Hospital, Oldenburg, Germany aut NATIONALLICENCE 700 1- Spranger Stefanie Praxis für Humangenetik, Bremen, Germany aut NATIONALLICENCE 700 1- Laccone Franco Department of Medical Genetics, Medical University of Vienna, Vienna, Austria aut NATIONALLICENCE 700 1- Tzschach Andreas Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195, Berlin, Germany aut NATIONALLICENCE 700 1- Kalscheuer Vera Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195, Berlin, Germany aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/2(2011-05-01), 165-167 1364-6745 12:2<165 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer