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PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Bayat, Allan; Knaus, Alexej; Juul, Annika Wollenberg; Dukic, Dejan; Gardella, Elena; Charzewska, Agnieszka; Clement, Emma; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Horn, Denise; Horton, Rachel; Hurst, Jane A; Josifova, Dragana; Larsen, Line H G; Lascelles, Karine; Obersztyn, Ewa; Pagnamenta, Alistair; Pal, Deb K; Pendziwiat, Manuela; Ryten, Mina; Taylor, Jenny; Vogt, Julie; Weber, Yvonne; Krawitz, Peter M; Helbig, Ingo; Kini, Usha; Møller, Rikke S.
Afiliação
  • Bayat A; Department of Pediatrics, University Hospital of Hvidovre, Hvidovre, Denmark. allan.bayat@regionh.dk.
  • Knaus A; Danish Epilepsy Centre, Dianalund, Denmark. allan.bayat@regionh.dk.
  • Juul AW; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.
  • Dukic D; Department of Pediatrics, University Hospital of Hvidovre, Hvidovre, Denmark.
  • Gardella E; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Bonn, Germany.
  • Charzewska A; Danish Epilepsy Centre, Dianalund, Denmark.
  • Clement E; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark.
  • Hjalgrim H; Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland.
  • Hoffman-Zacharska D; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK.
  • Horn D; Danish Epilepsy Centre, Dianalund, Denmark.
  • Horton R; Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark.
  • Hurst JA; Amplexa Genetics, Odense, Denmark.
  • Josifova D; Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland.
  • Larsen LHG; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Lascelles K; Wessex Clinical Genetics Service and Division of Human Genetics, Princess Anne Hospital, Southampton, UK.
  • Obersztyn E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK.
  • Pagnamenta A; Guy's and St. Thomas NHS Trust, Clinical Genetics Department, Great Maze Pond, London, UK.
  • Pal DK; Amplexa Genetics, Odense, Denmark.
  • Pendziwiat M; Department of Neuroscience, Evelina London Children's Hospital, St Thomas' Hospital, London, UK.
  • Ryten M; Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland.
  • Taylor J; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Vogt J; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
  • Weber Y; Department of Neuropediatrics University Medical Center Schleswig-Holstein Christian Albrechts University Kiel, Kiel, Germany.
  • Krawitz PM; Guy's and St. Thomas NHS Trust, Clinical Genetics Department, Great Maze Pond, London, UK.
  • Helbig I; Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London, Institute of Neurology, London, UK.
  • Kini U; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Møller RS; Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK.
Genet Med ; 21(10): 2216-2223, 2019 10.
Article em En | MEDLINE | ID: mdl-30976099
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Aciltransferases / Glicosilfosfatidilinositóis Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Aciltransferases / Glicosilfosfatidilinositóis Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article