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Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Reurink, Janine; de Vrieze, Erik; Li, Catherina H Z; van Berkel, Emma; Broekman, Sanne; Aben, Marco; Peters, Theo; Oostrik, Jaap; Neveling, Kornelia; Venselaar, Hanka; Ramos, Mariana Guimarães; Gilissen, Christian; Astuti, Galuh D N; Galbany, Jordi Corominas; van Lith-Verhoeven, Janneke J C; Ockeloen, Charlotte W; Haer-Wigman, Lonneke; Hoyng, Carel B; Cremers, Frans P M; Kremer, Hannie; Roosing, Susanne; van Wijk, Erwin.
Affiliation
  • Reurink J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Vrieze E; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Li CHZ; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Berkel E; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Broekman S; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Aben M; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Peters T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Oostrik J; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Venselaar H; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Ramos MG; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Astuti GDN; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Galbany JC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Lith-Verhoeven JJC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Ockeloen CW; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hoyng CB; Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.
  • Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kremer H; Department of Ophthalmology, Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands.
  • Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Wijk E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
NPJ Genom Med ; 7(1): 37, 2022 Jun 07.
Article in En | MEDLINE | ID: mdl-35672333
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: NPJ Genom Med Year: 2022 Document type: Article Affiliation country: Países Bajos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: NPJ Genom Med Year: 2022 Document type: Article Affiliation country: Países Bajos