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High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Spiegler, Stefanie; Najm, Juliane; Liu, Jian; Gkalympoudis, Stephanie; Schröder, Winnie; Borck, Guntram; Brockmann, Knut; Elbracht, Miriam; Fauth, Christine; Ferbert, Andreas; Freudenberg, Leonie; Grasshoff, Ute; Hellenbroich, Yorck; Henn, Wolfram; Hoffjan, Sabine; Hüning, Irina; Korenke, G Christoph; Kroisel, Peter M; Kunstmann, Erdmute; Mair, Martina; Munk-Schulenburg, Susanne; Nikoubashman, Omid; Pauli, Silke; Rudnik-Schöneborn, Sabine; Sudholt, Irene; Sure, Ulrich; Tinschert, Sigrid; Wiednig, Michaela; Zoll, Barbara; Ginsberg, Mark H; Felbor, Ute.
Afiliação
  • Spiegler S; Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald Greifswald, Germany.
  • Najm J; Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald Greifswald, Germany.
  • Liu J; Department of Medicine, University of California San Diego San Diego, California.
  • Gkalympoudis S; Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald Greifswald, Germany.
  • Schröder W; Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald Greifswald, Germany.
  • Borck G; Institute of Human Genetics, University of Ulm Ulm, Germany.
  • Brockmann K; Department of Paediatrics and Paediatric Neurology, University of Göttingen Göttingen, Germany.
  • Elbracht M; Institute of Human Genetics, University of Aachen Aachen, Germany.
  • Fauth C; Division of Human Genetics, Medical University Innsbruck Innsbruck, Austria.
  • Ferbert A; Department of Neurology, Klinikum Kassel GmbH Kassel, Germany.
  • Freudenberg L; Department of Neuropaediatrics, University Hospital Dresden Dresden, Germany.
  • Grasshoff U; Institute of Medical Genetics and Applied Genomics, Rare Disease Center Tübingen, University of Tübingen Tübingen, Germany.
  • Hellenbroich Y; Institute of Human Genetics, University of Lübeck Lübeck, Germany.
  • Henn W; Department of Human Genetics, Saarland University Homburg/Saar, Germany.
  • Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, Germany.
  • Hüning I; Institute of Human Genetics, University of Lübeck Lübeck, Germany.
  • Korenke GC; Department of Neuropaediatrics, Children's Hospital Oldenburg, Germany.
  • Kroisel PM; Institute of Human Genetics, Medical University Graz Graz, Austria.
  • Kunstmann E; Institute of Human Genetics, University of Würzburg Würzburg, Germany.
  • Mair M; Department of Human Genetics, Saarland University Homburg/Saar, Germany.
  • Munk-Schulenburg S; Institute of Human Genetics, University of Freiburg Freiburg, Germany.
  • Nikoubashman O; Department for Interventional and Diagnostic Neuroradiology, University Hospital Aachen Aachen, Germany.
  • Pauli S; Institute of Human Genetics, University of Göttingen Göttingen, Germany.
  • Rudnik-Schöneborn S; Institute of Human Genetics, University of Aachen Aachen, Germany.
  • Sudholt I; Institute of Medical Genetics, University of Zürich Zürich, Switzerland.
  • Sure U; Department of Neurosurgery, University Hospital Essen Essen, Germany.
  • Tinschert S; Institute of Clinical Genetics, Technical University of Dresden Dresden, Germany.
  • Wiednig M; Department of Environmental Dermatology and Venereology, Medical University Graz Graz, Austria.
  • Zoll B; Institute of Human Genetics, University of Göttingen Göttingen, Germany.
  • Ginsberg MH; Department of Medicine, University of California San Diego San Diego, California.
  • Felbor U; Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald Greifswald, Germany.
Mol Genet Genomic Med ; 2(2): 176-85, 2014 Mar.
Article em En | MEDLINE | ID: mdl-24689081
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Ano de publicação: 2014 Tipo de documento: Article