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Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid, Emma S; Papandreou, Apostolos; Drury, Suzanne; Boustred, Christopher; Yue, Wyatt W; Wedatilake, Yehani; Beesley, Clare; Jacques, Thomas S; Anderson, Glenn; Abulhoul, Lara; Broomfield, Alex; Cleary, Maureen; Grunewald, Stephanie; Varadkar, Sophia M; Lench, Nick; Rahman, Shamima; Gissen, Paul; Clayton, Peter T; Mills, Philippa B.
Afiliación
  • Reid ES; Genetics and Genomics Medicine Programme, UCL Institute of Child Health, London, UK.
  • Papandreou A; Genetics and Genomics Medicine Programme, UCL Institute of Child Health, London, UK.
  • Drury S; Neurology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Boustred C; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Yue WW; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Wedatilake Y; Structural Genomics Consortium, University of Oxford, Oxford, UK.
  • Beesley C; Genetics and Genomics Medicine Programme, UCL Institute of Child Health, London, UK.
  • Jacques TS; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Anderson G; Histopathology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Abulhoul L; Developmental Biology and Cancer Programme, UCL Institute of Child Health, London, UK.
  • Broomfield A; Histopathology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Cleary M; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Grunewald S; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Varadkar SM; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Lench N; Genetics and Genomics Medicine Programme, UCL Institute of Child Health, London, UK.
  • Rahman S; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Gissen P; Neurology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Clayton PT; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Mills PB; Genetics and Genomics Medicine Programme, UCL Institute of Child Health, London, UK.
Brain ; 139(11): 2844-2854, 2016 11 01.
Article en En | MEDLINE | ID: mdl-27604308
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías Metabólicas / Predisposición Genética a la Enfermedad / Errores Innatos del Metabolismo Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías Metabólicas / Predisposición Genética a la Enfermedad / Errores Innatos del Metabolismo Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido