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47 patients with FLNA associated periventricular nodular heterotopia.
Lange, Max; Kasper, Burkhard; Bohring, Axel; Rutsch, Frank; Kluger, Gerhard; Hoffjan, Sabine; Spranger, Stephanie; Behnecke, Anne; Ferbert, Andreas; Hahn, Andreas; Oehl-Jaschkowitz, Barbara; Graul-Neumann, Luitgard; Diepold, Katharina; Schreyer, Isolde; Bernhard, Matthias K; Mueller, Franziska; Siebers-Renelt, Ulrike; Beleza-Meireles, Ana; Uyanik, Goekhan; Janssens, Sandra; Boltshauser, Eugen; Winkler, Juergen; Schuierer, Gerhard; Hehr, Ute.
Afiliação
  • Lange M; Department of Neurosurgery, University of Regensburg, Medical Center, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany. max.lange@ukr.de.
  • Kasper B; Department of Neurology, Epilepsy Center, University of Erlangen, Medical Center, Erlangen, Germany. Burkhard.Kasper@uk-erlangen.de.
  • Bohring A; Institute of Human Genetics, University of Muenster, Muenster, Germany. abohring@uni-muenster.de.
  • Rutsch F; Department of General Pediatrics, Muenster University Children's Hospital, Muenster, Germany. frank.rutsch@ukmuenster.de.
  • Kluger G; Neuropädiatrie, Schön Klinik Vogtareuth, Vogtareuth, Germany und Paracelsus Medical University, Salzburg/Austria, Salzburg, Austria. GKluger@Schoen-Kliniken.de.
  • Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany. Sabine.Hoffjan@rub.de.
  • Spranger S; Praxis fuer Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany. sspranger@aol.com.
  • Behnecke A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. anne.behnecke@med.uni-heidelberg.de.
  • Ferbert A; Klinik für Neurologie, Klinikum Kassel and Medical School, Kassel, Germany. ferbert@klinikum-kassel.de.
  • Hahn A; Department of Neuropediatrics, University of Giessen, Giessen, Germany. Andreas.Hahn@paediat.med.uni-giessen.de.
  • Oehl-Jaschkowitz B; Praxis fuer Humangenetik, Homburg, Saar, Germany. oehl-jaschkowitz@genetik-saar.de.
  • Graul-Neumann L; Ambulantes Gesundheitszentrum der Charité (Humangenetik), Universitätsmedizin Berlin, Berlin, Germany. luitgard.graul-neumann@charite.de.
  • Diepold K; Department of Neuropediatrics, Klinikum Kassel, Kassel, Germany. katharina.diepold@klinikum-kassel.de.
  • Schreyer I; Institut für Humangenetik, Uni Jena, Jena, Germany. Isolde.schreyer@mti.uni-jena.de.
  • Bernhard MK; Department of Pediatrics, University of Leipzig Medical Center, Leipzig, Germany. matthias.bernhard@medizin.uni-leipzig.de.
  • Mueller F; Center for Human Genetics, Regensburg, Germany. info@humangenetik-regensburg.de.
  • Siebers-Renelt U; Institute of Human Genetics, University of Muenster, Muenster, Germany. Ulrike.Siebers-Renelt@ukmuenster.de.
  • Beleza-Meireles A; Genetics Clinic, Guy's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom. ana.beleza@gstt.nhs.uk.
  • Uyanik G; Zentrum für Medizinische Genetik, Hanusch-Krankenhaus der Wiener Gebietskrankenkasse, Wien, Austria. goekhan.uyanik@wgkk.at.
  • Janssens S; Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium. sandra.janssens@ugent.be.
  • Boltshauser E; Division of Neuropediatrics, University Children's Hospital Zürich, Zürich, Switzerland. eugen.boltshauser@bluewin.ch.
  • Winkler J; Division of Molecular Neurology, University Hospital, Friedrich-Alexander-University Erlangen-Nuernberg, Erlangen, Germany. Juergen.winkler@uk-erlangen.de.
  • Schuierer G; Department of Neuroradiology, University of Regensburg, Medical Center, Regensburg, Germany. Gerhard.Schuierer@medbo.de.
  • Hehr U; Department of Human Genetics, University of Regensburg, Medical Center, Regensburg, Germany. ute.hehr@ukr.de.
Orphanet J Rare Dis ; 10: 134, 2015 Oct 15.
Article em En | MEDLINE | ID: mdl-26471271
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Heterotopia Nodular Periventricular / Filaminas / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Qualitative_research / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Heterotopia Nodular Periventricular / Filaminas / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Qualitative_research / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Alemanha