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Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Efthymiou, Stephanie; Lemmers, Richard J L F; Vishnu, Venugopalan Y; Dominik, Natalia; Perrone, Benedetta; Facchini, Stefano; Vegezzi, Elisa; Ravaglia, Sabrina; Wilson, Lindsay; van der Vliet, Patrick J; Mishra, Rinkle; Reyaz, Alisha; Ahmad, Tanveer; Bhatia, Rohit; Polke, James M; Srivastava, Mv Padma; Cortese, Andrea; Houlden, Henry; van der Maarel, Silvère M; Hanna, Michael G; Bugiardini, Enrico.
Afiliação
  • Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • Vishnu VY; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
  • Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Perrone B; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Facchini S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Vegezzi E; IRCCS Mondino Foundation, 27100 Pavia, Italy.
  • Ravaglia S; IRCCS Mondino Foundation, 27100 Pavia, Italy.
  • Wilson L; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • Mishra R; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
  • Reyaz A; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
  • Ahmad T; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
  • Bhatia R; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
  • Polke JM; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
  • Srivastava MP; Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India.
  • Cortese A; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Houlden H; IRCCS Mondino Foundation, 27100 Pavia, Italy.
  • van der Maarel SM; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
  • Hanna MG; Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
  • Bugiardini E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Biomolecules ; 13(11)2023 10 24.
Article em En | MEDLINE | ID: mdl-38002249
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular Facioescapuloumeral Limite: Adult / Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular Facioescapuloumeral Limite: Adult / Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2023 Tipo de documento: Article