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Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.
Ahmadmehrabi, Shadi; Li, Binglan; Park, Joseph; Devkota, Batsal; Vujkovic, Marijana; Ko, Yi-An; Van Wagoner, David; Tang, W H Wilson; Krantz, Ian; Ritchie, Marylyn; Brant, Jason; Ruckenstein, Michael J; Epstein, Douglas J; Rader, Daniel J.
Afiliação
  • Ahmadmehrabi S; Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, OH, USA.
  • Li B; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Park J; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Devkota B; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Vujkovic M; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Ko YA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Van Wagoner D; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.
  • Tang WHW; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Krantz I; Department of Cardiovascular and Metabolic Sciences, Cleveland Clinic, Cleveland, OH, USA.
  • Ritchie M; Cleveland Clinic, Heart and Vascular Institute, Cleveland, OH, USA.
  • Brant J; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Epstein DJ; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA.
  • Rader DJ; Department of Otorhinolaryngology Head and Neck Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Hum Genet ; 140(6): 957-967, 2021 Jun.
Article em En | MEDLINE | ID: mdl-33745059
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Transativadores / Perda Auditiva / Mutação / Cardiomiopatias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans / Male País/Região como assunto: America do norte Idioma: En Revista: Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Transativadores / Perda Auditiva / Mutação / Cardiomiopatias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans / Male País/Região como assunto: America do norte Idioma: En Revista: Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos