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Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
Simpson, J K; Martinez-Queipo, M; Onoufriadis, A; Tso, S; Glass, E; Liu, L; Higashino, T; Scott, W; Tierney, C; Simpson, M A; Desomchoke, R; Youssefian, L; SaeIdian, A H; Vahidnezhad, H; Bisquera, A; Ravenscroft, J; Moss, C; O'Toole, E A; Burrows, N; Leech, S; Jones, E A; Lim, D; Ilchyshyn, A; Goldstraw, N; Cork, M J; Darne, S; Uitto, J; Martinez, A E; Mellerio, J E; McGrath, J A.
Afiliação
  • Simpson JK; NIHR Biomedical Research Centre, Guy's and St Thomas' NHS Foundation Trust and King's College London, London, U.K.
  • Martinez-Queipo M; St John's Institute of Dermatology, King's College London, Guy's Hospital, London, U.K.
  • Onoufriadis A; NIHR Biomedical Research Centre, Guy's and St Thomas' NHS Foundation Trust and King's College London, London, U.K.
  • Tso S; St John's Institute of Dermatology, King's College London, Guy's Hospital, London, U.K.
  • Glass E; NIHR Biomedical Research Centre, Guy's and St Thomas' NHS Foundation Trust and King's College London, London, U.K.
  • Liu L; St John's Institute of Dermatology, King's College London, Guy's Hospital, London, U.K.
  • Higashino T; NIHR Biomedical Research Centre, Guy's and St Thomas' NHS Foundation Trust and King's College London, London, U.K.
  • Scott W; NIHR Biomedical Research Centre, Guy's and St Thomas' NHS Foundation Trust and King's College London, London, U.K.
  • Tierney C; St John's Institute of Dermatology, King's College London, Guy's Hospital, London, U.K.
  • Simpson MA; St John's Institute of Dermatology, King's College London, Guy's Hospital, London, U.K.
  • Desomchoke R; St John's Institute of Dermatology, King's College London, Guy's Hospital, London, U.K.
  • Youssefian L; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, Guy's Hospital, London, U.K.
  • SaeIdian AH; St John's Institute of Dermatology, King's College London, Guy's Hospital, London, U.K.
  • Vahidnezhad H; Department of Dermatology & Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, U.S.A.
  • Bisquera A; Genetics, Genomics and Cancer Biology, PhD Program, Thomas Jefferson University, Philadelphia, PA, U.S.A.
  • Ravenscroft J; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
  • Moss C; Department of Dermatology & Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, U.S.A.
  • O'Toole EA; Genetics, Genomics and Cancer Biology, PhD Program, Thomas Jefferson University, Philadelphia, PA, U.S.A.
  • Burrows N; Department of Dermatology & Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, U.S.A.
  • Leech S; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.
  • Jones EA; School of Population Health and Environmental Sciences, Faculty of Life Sciences and Medicine, King's College London, U.K.
  • Lim D; Department of Dermatology, Nottingham University Hospitals NHS Trust, Nottingham, U.K.
  • Ilchyshyn A; Department of Dermatology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, U.K.
  • Goldstraw N; Department of Dermatology, Bart's Health NHS Trust, London, U.K.
  • Cork MJ; Department of Dermatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, U.K.
  • Darne S; Department of Dermatology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, U.K.
  • Uitto J; Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, U.K.
  • Martinez AE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, U.K.
  • Mellerio JE; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, U.K.
  • McGrath JA; Department of Dermatology, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, U.K.
Br J Dermatol ; 182(3): 729-737, 2020 03.
Article em En | MEDLINE | ID: mdl-31168818
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ictiose Lamelar / Ictiose Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ictiose Lamelar / Ictiose Idioma: En Ano de publicação: 2020 Tipo de documento: Article