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Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
Bayat, Allan; Pendziwiat, Manuela; Obersztyn, Ewa; Goldenberg, Paula; Zacher, Pia; Döring, Jan Henje; Syrbe, Steffen; Begtrup, Amber; Borovikov, Artem; Sharkov, Artem; Karasinska, Aneta; Gizewska, Maria; Mitchell, Wendy; Morava, Eva; Møller, Rikke S; Rubboli, Guido.
Afiliação
  • Bayat A; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Pendziwiat M; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.
  • Obersztyn E; Department of Neuropediatrics, Children's Hospital, University Medical Center Schleswig-Holstein, University of Kiel, Kiel, Germany.
  • Goldenberg P; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
  • Zacher P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Döring JH; Division of Medical Genetics, Massachusetts General Hospital, Boston, MA, United States.
  • Syrbe S; The Saxon Epilepsy Center Kleinwachau, Radeberg, Germany.
  • Begtrup A; Department of General Pediatrics, Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Borovikov A; Department of General Pediatrics, Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Sharkov A; GeneDx, Gaithersburg, MD, United States.
  • Karasinska A; Research Centre for Medical Genetics, Moscow, Russia.
  • Gizewska M; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia.
  • Mitchell W; Department of Dermatology, The Nicolas Copernicus State Hospital, Koszalin, Poland.
  • Morava E; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
  • Møller RS; Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.
  • Rubboli G; Department of Clinical Genomics, Laboratory of Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, United States.
Front Genet ; 12: 663643, 2021.
Article em En | MEDLINE | ID: mdl-34046058
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Dinamarca
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Dinamarca