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Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Chen, Robert; Diaz-Miranda, Maria Alejandra; Aref-Eshghi, Erfan; Hartman, Tiffiney R; Griffith, Christopher; Morrison, Jennifer L; Wheeler, Patricia G; Torti, Erin; Richard, Gabriele; Kenna, Margaret; Dechene, Elizabeth T; Spinner, Nancy B; Bai, Renkui; Conlin, Laura K; Krantz, Ian D; Amr, Sami S; Luo, Minjie.
Afiliação
  • Chen R; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Diaz-Miranda MA; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Aref-Eshghi E; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Hartman TR; Division of Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Griffith C; Department of Pediatrics, University of South Florida, Tampa, Florida, USA.
  • Morrison JL; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA.
  • Wheeler PG; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA.
  • Torti E; GeneDx, Gaithersburg, Maryland, USA.
  • Richard G; GeneDx, Gaithersburg, Maryland, USA.
  • Kenna M; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Dechene ET; Department of Otolaryngology-Head and Neck Surgery, Harvard Medical School, Boston, Massachusetts, USA.
  • Spinner NB; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Bai R; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Conlin LK; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Krantz ID; GeneDx, Gaithersburg, Maryland, USA.
  • Amr SS; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Luo M; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Hum Mutat ; 43(12): 1837-1843, 2022 12.
Article em En | MEDLINE | ID: mdl-35870179
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Surdez / Perda Auditiva Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
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: Surdez / Perda Auditiva Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos