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Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.
Hannah, William B; Truty, Rebecca; Gonzales, Virginia; Kithcart, Gregory P; Ouyang, Karen; Zeman, Michelle K; Li, Chun; Drumm, Mitchell; Nykamp, Keith; Gaston, Benjamin M.
Afiliação
  • Hannah WB; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH. Electronic address: whannah@unc.edu.
  • Truty R; Invitae, San Francisco, CA.
  • Gonzales V; Division of Pulmonology, Department of Pediatrics, Rainbow Babies and Children's Hospital, University Hospitals Cleveland Medical Center, Cleveland, OH.
  • Kithcart GP; Division of Pulmonology, Department of Pediatrics, Rainbow Babies and Children's Hospital, University Hospitals Cleveland Medical Center, Cleveland, OH.
  • Ouyang K; Invitae, San Francisco, CA.
  • Zeman MK; Invitae, San Francisco, CA.
  • Li C; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH.
  • Drumm M; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH; Division of Pulmonology, Department of Pediatrics, Rainbow Babies and Children's Hospital, University Hospitals Cleveland Medical Center, Cleveland, OH.
  • Nykamp K; Invitae, San Francisco, CA.
  • Gaston BM; Division of Pulmonology, Department of Pediatrics, Rainbow Babies and Children's Hospital, University Hospitals Cleveland Medical Center, Cleveland, OH.
J Pediatr ; 215: 172-177.e2, 2019 12.
Article em En | MEDLINE | ID: mdl-31610925
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos da Motilidade Ciliar / Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística / Mutação Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos da Motilidade Ciliar / Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística / Mutação Tipo de estudo: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 2019 Tipo de documento: Article