Your browser doesn't support javascript.
loading
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
Gangfuß, Andrea; Hentschel, Andreas; Heil, Lorena; Gonzalez, Maria; Schönecker, Anne; Depienne, Christel; Nishimura, Anna; Zengeler, Diana; Kohlschmidt, Nicolai; Sickmann, Albert; Schara-Schmidt, Ulrike; Fürst, Dieter O; van der Ven, Peter F M; Hahn, Andreas; Roos, Andreas; Schänzer, Anne.
Afiliação
  • Gangfuß A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany. Electronic address: andrea.gangfuss@uk-essen.de.
  • Hentschel A; Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
  • Heil L; Institute for Cell Biology, Department of Molecular Cell, University of Bonn, 53121 Bonn, Germany.
  • Gonzalez M; Pediatric Heart Center, Justus Liebig University Giessen, 35392 Giessen, Germany.
  • Schönecker A; Department of Pediatric Cardiology, University Hospital Essen, University Duisburg-Essen, 45147 Essen, Germany.
  • Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
  • Nishimura A; Institute of Neuropathology, Justus Liebig University Giessen, 35392 Giessen, Germany.
  • Zengeler D; Center for Genomics and Transcriptomics (CeGaT) GmbH, 72076 Tübingen, Germany.
  • Kohlschmidt N; Institute of Clinical Genetics and Tumour Genetics, 53115 Bonn, Germany.
  • Sickmann A; Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
  • Schara-Schmidt U; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
  • Fürst DO; Institute for Cell Biology, Department of Molecular Cell, University of Bonn, 53121 Bonn, Germany.
  • van der Ven PFM; Institute for Cell Biology, Department of Molecular Cell, University of Bonn, 53121 Bonn, Germany.
  • Hahn A; Department of Child Neurology, Justus Liebig University Giessen, 35392 Giessen, Germany.
  • Roos A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospit
  • Schänzer A; Institute of Neuropathology, Justus Liebig University Giessen, 35392 Giessen, Germany. Electronic address: anne.Schaenzer@patho.med.uni-giessen.de.
Mol Genet Metab ; 136(3): 226-237, 2022 07.
Article em En | MEDLINE | ID: mdl-35660068
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article