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Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.
Koster, R; Brandão, R D; Tserpelis, D; van Roozendaal, C E P; van Oosterhoud, C N; Claes, K B M; Paulussen, A D C; Sinnema, M; Vreeburg, M; van der Schoot, V; Stumpel, C T R M; Broen, M P G; Spruijt, L; Jongmans, M C J; Lesnik Oberstein, S A J; Plomp, A S; Misra-Isrie, M; Duijkers, F A; Louwers, M J; Szklarczyk, R; Derks, K W J; Brunner, H G; van den Wijngaard, A; van Geel, M; Blok, M J.
Afiliación
  • Koster R; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Brandão RD; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Tserpelis D; GROW Institute for Developmental Biology and Cancer, Maastricht University Medical Center, Maastricht, The Netherlands.
  • van Roozendaal CEP; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • van Oosterhoud CN; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Claes KBM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Paulussen ADC; Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Vreeburg M; GROW Institute for Developmental Biology and Cancer, Maastricht University Medical Center, Maastricht, The Netherlands.
  • van der Schoot V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Broen MPG; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Spruijt L; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Jongmans MCJ; Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Lesnik Oberstein SAJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Plomp AS; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Misra-Isrie M; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
  • Duijkers FA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Louwers MJ; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Szklarczyk R; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
  • Derks KWJ; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Brunner HG; Pediatrics, Bernhoven hospital, Uden, The Netherlands.
  • van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • van Geel M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Blok MJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
NPJ Genom Med ; 6(1): 95, 2021 Nov 15.
Article en En | MEDLINE | ID: mdl-34782607
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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: NPJ Genom Med Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Imprimir
XML
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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: NPJ Genom Med Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos