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Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Schänzer, Anne; Achleitner, Melanie T; Trümbach, Dietrich; Hubert, Laurence; Munnich, Arnold; Ahlemeyer, Barbara; AlAbdulrahim, Maha M; Greif, Philipp A; Vosberg, Sebastian; Hummer, Blake; Feichtinger, René G; Mayr, Johannes A; Wortmann, Saskia B; Aichner, Heidi; Rudnik-Schöneborn, Sabine; Ruiz, Anna; Gabau, Elisabeth; Sánchez, Jacobo Pérez; Ellard, Sian; Homfray, Tessa; Stals, Karen L; Wurst, Wolfgang; Neubauer, Bernd A; Acker, Till; Bohlander, Stefan K; Asensio, Cédric; Besmond, Claude; Alkuraya, Fowzan S; AlSayed, Moenaldeen D; Hahn, Andreas; Weber, Axel.
Afiliación
  • Schänzer A; Institute of Neuropathology, Justus-Liebig-University, Giessen, Germany.
  • Achleitner MT; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
  • Trümbach D; Institute of Developmental Genetics, Helmholtz Center, Munich, Germany.
  • Hubert L; Institute of Metabolism and Cell Death, Helmholtz Center, Munich, Germany.
  • Munnich A; Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France.
  • Ahlemeyer B; Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France.
  • AlAbdulrahim MM; Institute for Anatomy and Cell Biology, Division of Medical Cell Biology, Justus Liebig University, Giessen, Germany.
  • Greif PA; King Abdullah Bin Abdulaziz University Hospital, Riyadh, Saudi Arabia.
  • Vosberg S; Experimental Leukemia and Lymphoma Research Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.
  • Hummer B; Experimental Leukemia and Lymphoma Research Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.
  • Feichtinger RG; German Cancer Research Centre (DKFZ), Heidelberg, Germany.
  • Mayr JA; Molecular and Cellular Biophysics Program, Department of Biological Sciences, University of Denver, Denver, CO, USA.
  • Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
  • Aichner H; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
  • Rudnik-Schöneborn S; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
  • Ruiz A; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.
  • Gabau E; Department of Pediatrics, Academic Teaching Hospital, Landeskrankenhaus Feldkirch, Feldkirch, Austria.
  • Sánchez JP; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Ellard S; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.
  • Homfray T; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.
  • Stals KL; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.
  • Wurst W; Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
  • Neubauer BA; College of Medicine and Health, University of Exeter, Exeter, UK.
  • Acker T; Saint George's University Hospital and Royal Brompton Hospital, London, UK.
  • Bohlander SK; Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
  • Asensio C; Institute of Developmental Genetics, Helmholtz Center, Munich, Germany.
  • Besmond C; Chair of Developmental Genetics, Faculty of Life and Food Sciences Weihenstephan, Technische Universität München, Freising-Weihenstephan, Germany.
  • Alkuraya FS; Deutsches Zentrum für Neurodegenerative Erkrankungen e. V. (DZNE), Munich, Germany.
  • AlSayed MD; Munich Cluster for Systems Neurology (SyNergy), Ludwig-Maximilians-Universität, Munich, Germany.
  • Hahn A; Department of Child Neurology, Justus-Liebig-University, Giessen, Germany.
  • Weber A; Institute of Neuropathology, Justus-Liebig-University, Giessen, Germany.
Ann Neurol ; 90(1): 143-158, 2021 07.
Article en En | MEDLINE | ID: mdl-33999436
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Epilepsia / Hipopituitarismo Tipo de estudio: Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Ann Neurol Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Epilepsia / Hipopituitarismo Tipo de estudio: Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Ann Neurol Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos