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SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
McNeill, Alisdair; Iovino, Emanuela; Mansard, Luke; Vache, Christel; Baux, David; Bedoukian, Emma; Cox, Helen; Dean, John; Goudie, David; Kumar, Ajith; Newbury-Ecob, Ruth; Fallerini, Chiara; Renieri, Alessandra; Lopergolo, Diego; Mari, Francesca; Blanchet, Catherine; Willems, Marjolaine; Roux, Anne-Francoise; Pippucci, Tommaso; Delpire, Eric.
Afiliación
  • McNeill A; Department of Neuroscience, University of Sheffield, Sheffield, UK.
  • Iovino E; Neuroscience Institute, University of Sheffield, Western Bank, Sheffield, UK.
  • Mansard L; Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
  • Vache C; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
  • Baux D; Laboratory of Molecular Genetics, CHU Montpellier, University of Montpellier, Montpellier, France.
  • Bedoukian E; Laboratory of Molecular Genetics, CHU Montpellier, University of Montpellier, Montpellier, France.
  • Cox H; Laboratory of Molecular Genetics, CHU Montpellier, University of Montpellier, Montpellier, France.
  • Dean J; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, USA.
  • Goudie D; Regional Clinical Genetics Unit, Birmingham Women's and Children's Hospital NHS Foundation Trust, Mindelsohn Way, Birmingham, UK.
  • Kumar A; North of Scotland Genetics Service, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, UK.
  • Newbury-Ecob R; East of Scotland Regional Genetics Service, Level 6, Ninewells Hospital, Dundee, UK.
  • Fallerini C; Clinical Genetics Unit, Great Ormond Street Hospital, Great Ormond Street, London, UK.
  • Renieri A; Bristol Regional Genetics Service, St Michael's Hospital, Southwell Street, Bristol, UK.
  • Lopergolo D; Medical Genetics, University of Siena, Siena, Italy.
  • Mari F; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Blanchet C; Medical Genetics, University of Siena, Siena, Italy.
  • Willems M; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Roux AF; Medical Genetics, University of Siena, Siena, Italy.
  • Pippucci T; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Delpire E; Medical Genetics, University of Siena, Siena, Italy.
Brain ; 143(8): 2380-2387, 2020 08 01.
Article en En | MEDLINE | ID: mdl-32658972
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miembro 2 de la Familia de Transportadores de Soluto 12 / Trastornos del Neurodesarrollo / Vestibulopatía Bilateral / Pérdida Auditiva Sensorineural Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miembro 2 de la Familia de Transportadores de Soluto 12 / Trastornos del Neurodesarrollo / Vestibulopatía Bilateral / Pérdida Auditiva Sensorineural Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido