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A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.
Smits, Jeroen J; van Beelen, Eline; Weegerink, Nicole J D; Oostrik, Jaap; Huygen, Patrick L M; Beynon, Andy J; Lanting, Cornelis P; Kunst, Henricus P M; Schraders, Margit; Kremer, Hannie; de Vrieze, Erik; Pennings, Ronald J E.
Affiliation
  • Smits JJ; Department of Otorhinolaryngology, Hearing & Genes.
  • van Beelen E; Donders Institute for Brain, Cognition and Behaviour.
  • Weegerink NJD; Department of Otorhinolaryngology, Hearing & Genes.
  • Oostrik J; Department of Otorhinolaryngology, Hearing & Genes.
  • Huygen PLM; Department of Otorhinolaryngology, Hearing & Genes.
  • Beynon AJ; Department of Otorhinolaryngology, Hearing & Genes.
  • Lanting CP; Department of Otorhinolaryngology, Hearing & Genes.
  • Kunst HPM; Department of Otorhinolaryngology, Hearing & Genes.
  • Schraders M; Donders Institute for Brain, Cognition and Behaviour.
  • Kremer H; Department of Otorhinolaryngology, Hearing & Genes.
  • de Vrieze E; Radboud Institute for Health Sciences.
  • Pennings RJE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Otol Neurotol ; 42(4): e399-e407, 2021 04 01.
Article in En | MEDLINE | ID: mdl-33710989
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Extracellular Matrix Proteins / Hearing Loss, Sensorineural Type of study: Prognostic_studies Limits: Adolescent / Adult / Humans / Middle aged Language: En Journal: Otol Neurotol Journal subject: NEUROLOGIA / OTORRINOLARINGOLOGIA Year: 2021 Document type: Article Country of publication: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Extracellular Matrix Proteins / Hearing Loss, Sensorineural Type of study: Prognostic_studies Limits: Adolescent / Adult / Humans / Middle aged Language: En Journal: Otol Neurotol Journal subject: NEUROLOGIA / OTORRINOLARINGOLOGIA Year: 2021 Document type: Article Country of publication: United States