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Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.
Poole, Rebecca L; Badonyi, Mihaly; Cozens, Alison; Foulds, Nicola; Marsh, Joseph A; Rahman, Shamima; Ross, Alison; Schooley, Joanna; Straub, Volker; Quigley, Alan J; FitzPatrick, David; Lampe, Anne.
Afiliação
  • Poole RL; South East of Scotland Clinical Genetics Service, Western General Hospital, Crewe Road South, Edinburgh, EH4 2XU, UK. Electronic address: rebecca.poole@nhs.scot.
  • Badonyi M; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Cozens A; Royal Hospital for Children and Young People, 50 Little France Crescent, Edinburgh Bio Quarter, Edinburgh, EH16 4TJ, UK.
  • Foulds N; Wessex Clinical Genetics Services, University of Southampton NHS Foundation Trust, Southampton, UK.
  • Marsh JA; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Rahman S; Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.
  • Ross A; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, AB25 2ZA, UK.
  • Schooley J; Wessex Clinical Genetics Services, University of Southampton NHS Foundation Trust, Southampton, UK.
  • Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE1 3BZ, UK.
  • Quigley AJ; Paediatric Imaging Department, Royal Hospital for Children and Young People, 50 Little France Crescent, Edinburgh Bio Quarter, Edinburgh, EH16 4TJ, UK.
  • FitzPatrick D; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Lampe A; South East of Scotland Clinical Genetics Service, Western General Hospital, Crewe Road South, Edinburgh, EH4 2XU, UK.
Eur J Med Genet ; 66(3): 104696, 2023 Mar.
Article em En | MEDLINE | ID: mdl-36639056
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Eur J Med Genet Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Eur J Med Genet Ano de publicação: 2023 Tipo de documento: Article