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Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.
Velde, Hedwig M; Huizenga, Xanne J J; Yntema, Helger G; Haer-Wigman, Lonneke; Beynon, Andy J; Oostrik, Jaap; Pegge, Sjoert A H; Kremer, Hannie; Lanting, Cris P; Pennings, Ronald J E.
Affiliation
  • Velde HM; Department of Otorhinolaryngology, Radboudumc, 6525 GA Nijmegen, The Netherlands.
  • Huizenga XJJ; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, 6525 GA Nijmegen, The Netherlands.
  • Yntema HG; Department of Otorhinolaryngology, Radboudumc, 6525 GA Nijmegen, The Netherlands.
  • Haer-Wigman L; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, The Netherlands.
  • Beynon AJ; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Oostrik J; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, The Netherlands.
  • Pegge SAH; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
  • Kremer H; Department of Otorhinolaryngology, Radboudumc, 6525 GA Nijmegen, The Netherlands.
  • Lanting CP; Department of Otorhinolaryngology, Radboudumc, 6525 GA Nijmegen, The Netherlands.
  • Pennings RJE; Donders Institute for Brain, Cognition and Behaviour, Radboudumc, 6525 GA Nijmegen, The Netherlands.
Genes (Basel) ; 14(2)2023 02 10.
Article in En | MEDLINE | ID: mdl-36833385

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Deafness / Hearing Loss, Sensorineural Type of study: Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Humans Language: En Journal: Genes (Basel) Year: 2023 Document type: Article Affiliation country: Netherlands Country of publication: Switzerland

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Deafness / Hearing Loss, Sensorineural Type of study: Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Humans Language: En Journal: Genes (Basel) Year: 2023 Document type: Article Affiliation country: Netherlands Country of publication: Switzerland