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How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Wortmann, Saskia B; Oud, Machteld M; Alders, Mariëlle; Coene, Karlien L M; van der Crabben, Saskia N; Feichtinger, René G; Garanto, Alejandro; Hoischen, Alex; Langeveld, Mirjam; Lefeber, Dirk; Mayr, Johannes A; Ockeloen, Charlotte W; Prokisch, Holger; Rodenburg, Richard; Waterham, Hans R; Wevers, Ron A; van de Warrenburg, Bart P C; Willemsen, Michel A A P; Wolf, Nicole I; Vissers, Lisenka E L M; van Karnebeek, Clara D M.
Afiliação
  • Wortmann SB; Radboud Center for Mitochondrial and Metabolic Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Oud MM; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.
  • Alders M; United for Metabolic Diseases, Amsterdam, The Netherlands.
  • Coene KLM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van der Crabben SN; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.
  • Feichtinger RG; United for Metabolic Diseases, Amsterdam, The Netherlands.
  • Garanto A; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hoischen A; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.
  • Langeveld M; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.
  • Lefeber D; Radboud Center for Mitochondrial and Metabolic Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Mayr JA; Department of Pediatrics, Amalia Children's Hospital, Radboud Institute for Molecular Lifesciences, Nijmegen, The Netherlands.
  • Ockeloen CW; Department of Human Genetics, Radboud Institute for Molecular Lifesciences, Nijmegen, The Netherlands.
  • Prokisch H; Department of Human Genetics, Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud Institute of Medical Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Rodenburg R; Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, location AMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Waterham HR; United for Metabolic Diseases, Amsterdam, The Netherlands.
  • Wevers RA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van de Warrenburg BPC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Willemsen MAAP; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.
  • Wolf NI; Department of Human Genetics, Radboud Institute for Molecular Lifesciences, Nijmegen, The Netherlands.
  • Vissers LELM; School of Medicine, Institute of Human Genetics, Technical University Munich and Institute of Neurogenomics, Neuherberg, Germany.
  • van Karnebeek CDM; Radboud Center for Mitochondrial and Metabolic Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.
J Inherit Metab Dis ; 45(4): 663-681, 2022 07.
Article em En | MEDLINE | ID: mdl-35506430
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genômica / Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genômica / Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda