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Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.
Bharadwaj, Thashi; Schrauwen, Isabelle; Acharya, Anushree; Nouel-Saied, Liz M; Väisänen, Marja-Leena; Kraatari, Minna; Rahikkala, Elisa; Jarvela, Irma; Kotimäki, Jouko; Leal, Suzanne M.
Afiliação
  • Bharadwaj T; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Schrauwen I; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Acharya A; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Nouel-Saied LM; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Väisänen ML; Northern Finland Laboratory Centre NordLab and Medical Research Centre, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Kraatari M; Department of Clinical Genetics, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Rahikkala E; Department of Clinical Genetics, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
  • Jarvela I; Institute of Biomedicine, University of Turku, Turku, Finland.
  • Kotimäki J; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
  • Leal SM; Department of Otorhinolaryngology, Kainuu Central Hospital, Kajaani, Finland.
Mol Genet Genomic Med ; 10(3): e1866, 2022 03.
Article em En | MEDLINE | ID: mdl-35150090
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Surdez / Perda Auditiva Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Surdez / Perda Auditiva Idioma: En Ano de publicação: 2022 Tipo de documento: Article