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Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
Seco, Celia Zazo; Oonk, Anne M M; Domínguez-Ruiz, María; Draaisma, Jos M T; Gandía, Marta; Oostrik, Jaap; Neveling, Kornelia; Kunst, Henricus P M; Hoefsloot, Lies H; del Castillo, Ignacio; Pennings, Ronald J E; Kremer, Hannie; Admiraal, Ronald J C; Schraders, Margit.
Afiliação
  • Seco CZ; 1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud Univ
  • Oonk AM; 1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Domínguez-Ruiz M; 1] Servicio de Genética, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain [2] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Draaisma JM; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gandía M; 1] Servicio de Genética, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain [2] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Oostrik J; 1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud Univ
  • Neveling K; 1] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands [2] Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kunst HP; 1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hoefsloot LH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • del Castillo I; Servicio de Genética, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain.
  • Pennings RJ; 1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kremer H; 1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud Univ
  • Admiraal RJ; 1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Schraders M; 1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud Univ
Eur J Hum Genet ; 23(2): 189-94, 2015 Feb.
Article em En | MEDLINE | ID: mdl-24781754
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Vestibulares / Canais de Cloreto / Códon sem Sentido / Homozigoto / Proteínas dos Microfilamentos Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Vestibulares / Canais de Cloreto / Códon sem Sentido / Homozigoto / Proteínas dos Microfilamentos Tipo de estudo: Diagnostic_studies Limite: Adolescent / Child / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de publicação: Reino Unido