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Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.
Sofou, Kalliopi; de Coo, Irenaeus F M; Ostergaard, Elsebet; Isohanni, Pirjo; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; Lönnqvist, Tuula; Bindoff, Laurence Albert; Tulinius, Már; Darin, Niklas.
Afiliação
  • Sofou K; Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.
  • de Coo IFM; Department of Neurology, The Erasmus University Medical Center, Rotterdam, Netherlands.
  • Ostergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
  • Isohanni P; Department of Paediatric Neurology, Children's Hospital, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.
  • Naess K; Research Programs Unit, Molecular Neurology, Biomedicum, University of Helsinki, Helsinki, Finland.
  • De Meirleir L; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Tzoulis C; Department of Paediatric Neurology, University Hospital Vrije Universiteit Brussel (VUB), Brussels, Belgium.
  • Uusimaa J; Department of Neurology, Haukeland University Hospital, Bergen, Norway.
  • Lönnqvist T; Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Bindoff LA; Department of Paediatrics, Institute of Clinical Medicine, University of Oulu, Oulu, Finland.
  • Tulinius M; Medical Research Center, Oulu University Hospital, Oulu, Finland.
  • Darin N; Department of Paediatric Neurology, Children's Hospital, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.
J Med Genet ; 55(1): 21-27, 2018 01.
Article em En | MEDLINE | ID: mdl-29101127
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Leigh / Estudos de Associação Genética Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Leigh / Estudos de Associação Genética Idioma: En Ano de publicação: 2018 Tipo de documento: Article