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Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
Reid, Kimberley M; Steel, Dora; Nair, Sanjana; Bhate, Sanjay; Biassoni, Lorenzo; Sudhakar, Sniya; Heys, Michelle; Burke, Elizabeth; Kamsteeg, Erik-Jan; Hameed, Biju; Zech, Michael; Mencacci, Niccolo E; Barwick, Katy; Topf, Maya; Kurian, Manju A.
Afiliação
  • Reid KM; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS Institute of Child Health, London WC1N 1DZ, UK.
  • Steel D; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS Institute of Child Health, London WC1N 1DZ, UK.
  • Nair S; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Bhate S; Leibniz Institute of Virology (LIV), Centre for Structural Systems Biology (CSSB), 20251 Hamburg, Germany.
  • Biassoni L; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Sudhakar S; Department of Radiology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Heys M; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Burke E; Department of Radiology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Kamsteeg EJ; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Genomics England Research Consortium; Department of Radiology, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Hameed B; Department of Population, Policy and Practice, UCL GOS Institute of Child Health, London WC1N 1DZ, UK.
  • Zech M; Specialist Children's and Young People's Services, Newham, East London NHS Foundation Trust, London RM13 8GQ, UK.
  • Mencacci NE; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD 20892, USA.
  • Barwick K; Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
  • Topf M; Department of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, The Netherlands.
  • Kurian MA; Genomics England, London EC1M 6BQ, UK.
Cells ; 12(7)2023 03 30.
Article em En | MEDLINE | ID: mdl-37048120
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Distúrbios Distônicos / Distonia Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Cells Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Distúrbios Distônicos / Distonia Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Cells Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Reino Unido