Found: 5

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  • Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies.

    Published in:
    Journal of Child Neurology, 2014, v. 29, n. 5, p. 704, doi. 10.1177/0883073813505354
    By:
    • Baumgart, Anna;
    • Spiczak, Sarah von;
    • Verhoeven-Duif, Nanda M.;
    • Møller, Rikke S.;
    • Boor, Rainer;
    • Muhle, Hiltrud;
    • Jähn, Johanna A.;
    • Klitten, Laura L.;
    • Hjalgrim, Helle;
    • Lindhout, Dick;
    • Stephani, Ulrich;
    • van Kempen, Marjan J. A.;
    • Helbig, Ingo
    Publication type:
    Article

  • The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

    Published in:
    Nucleic Acids Research, 2014, v. 42, n. D1, p. D966
    By:
    • Köhler, Sebastian;
    • Doelken, Sandra C.;
    • Mungall, Christopher J.;
    • Bauer, Sebastian;
    • Firth, Helen V.;
    • Bailleul-Forestier, Isabelle;
    • Black, Graeme C. M.;
    • Brown, Danielle L.;
    • Brudno, Michael;
    • Campbell, Jennifer;
    • FitzPatrick, David R.;
    • Eppig, Janan T.;
    • Jackson, Andrew P.;
    • Freson, Kathleen;
    • Girdea, Marta;
    • Helbig, Ingo;
    • Hurst, Jane A.;
    • Jähn, Johanna;
    • Jackson, Laird G.;
    • Kelly, Anne M.
    Publication type:
    Article

  • Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

    Published in:
    Nature Genetics, 2013, v. 45, n. 9, p. 1067, doi. 10.1038/ng.2728
    By:
    • 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
    Publication type:
    Article

  • Structural genomic variation in childhood epilepsies with complex phenotypes.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 7, p. 896, doi. 10.1038/ejhg.2013.262
    By:
    • Helbig, Ingo;
    • Swinkels, Marielle E M;
    • Aten, Emmelien;
    • Caliebe, Almuth;
    • van 't Slot, Ruben;
    • Boor, Rainer;
    • von Spiczak, Sarah;
    • Muhle, Hiltrud;
    • Jähn, Johanna A;
    • van Binsbergen, Ellen;
    • van Nieuwenhuizen, Onno;
    • Jansen, Floor E;
    • Braun, Kees P J;
    • de Haan, Gerrit-Jan;
    • Tommerup, Niels;
    • Stephani, Ulrich;
    • Hjalgrim, Helle;
    • Poot, Martin;
    • Lindhout, Dick;
    • Brilstra, Eva H
    Publication type:
    Article

  • CDKL5 Mutations as a Cause of Severe Epilepsy in Infancy: Clinical and Electroencephalographic Long-term Course in 4 Patients.

    Published in:
    Journal of Child Neurology, 2013, v. 28, n. 7, p. 937, doi. 10.1177/0883073812451497
    By:
    • Jähn, Johanna;
    • Caliebe, Almuth;
    • von Spiczak, Sarah;
    • Boor, Rainer;
    • Stefanova, Irina;
    • Stephani, Ulrich;
    • Helbig, Ingo;
    • Muhle, Hiltrud
    Publication type:
    Article