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Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Fokkema, Ivo F A C; van der Velde, Kasper J; Slofstra, Mariska K; Ruivenkamp, Claudia A L; Vogel, Maartje J; Pfundt, Rolph; Blok, Marinus J; Lekanne Deprez, Ronald H; Waisfisz, Quinten; Abbott, Kristin M; Sinke, Richard J; Rahman, Rubayte; Nijman, Isaäc J; de Koning, Bart; Thijs, Gert; Wieskamp, Nienke; Moritz, Ruben J G; Charbon, Bart; Saris, Jasper J; den Dunnen, Johan T; Laros, Jeroen F J; Swertz, Morris A; van Gijn, Marielle E.
  • Fokkema IFAC; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • van der Velde KJ; Genomics Coordination Center & Department of Genetics, University Medical Center, Groningen, University of Groningen, Groningen, The Netherlands.
  • Slofstra MK; Genomics Coordination Center & Department of Genetics, University Medical Center, Groningen, University of Groningen, Groningen, The Netherlands.
  • Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Vogel MJ; Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands.
  • Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Blok MJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Lekanne Deprez RH; Department of Clinical Genetics, Academic Medical Center, Amsterdam UMC, Amsterdam, The Netherlands.
  • Waisfisz Q; Department of Clinical Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands.
  • Abbott KM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Sinke RJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Rahman R; Department of Research IT, Netherlands Cancer Institute, Amsterdam, The Netherlands.
  • Nijman IJ; Medicine Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • de Koning B; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Thijs G; DGG-Genomics Software Solutions, Agilent Technologies, Leuven, Belgium.
  • Wieskamp N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Moritz RJG; Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands.
  • Charbon B; Genomics Coordination Center & Department of Genetics, University Medical Center, Groningen, University of Groningen, Groningen, The Netherlands.
  • Saris JJ; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Laros JFJ; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Swertz MA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • van Gijn ME; Genomics Coordination Center & Department of Genetics, University Medical Center, Groningen, University of Groningen, Groningen, The Netherlands.
Hum Mutat ; 40(12): 2230-2238, 2019 12.
Article en En | MEDLINE | ID: mdl-31433103
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Difusión de la Información / Secuenciación de Nucleótidos de Alto Rendimiento / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Guideline Límite: Humans País como asunto: Europa Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Difusión de la Información / Secuenciación de Nucleótidos de Alto Rendimiento / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Guideline Límite: Humans País como asunto: Europa Idioma: En Año: 2019 Tipo del documento: Article