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Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Schrauwen, Isabelle; Valgaeren, Hanne; Tomas-Roca, Laura; Sommen, Manou; Altunoglu, Umut; Wesdorp, Mieke; Beyens, Matthias; Fransen, Erik; Nasir, Abdul; Vandeweyer, Geert; Schepers, Anne; Rahmoun, Malika; van Beusekom, Ellen; Huentelman, Matt J.; Offeciers, Erwin; Dhooghe, Ingeborg; Huber, Alex; Van de Heyning, Paul; Zanetti, Diego; De Leenheer, Els M. R.; De Leenheer, Els M. R.


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  "@id": 70275, 
  "@type": "ScholarlyArticle", 
  "creator": [
    {
      "@type": "Person", 
      "name": "Schrauwen, Isabelle"
    }, 
    {
      "@type": "Person", 
      "name": "Valgaeren, Hanne"
    }, 
    {
      "@type": "Person", 
      "name": "Tomas-Roca, Laura"
    }, 
    {
      "@type": "Person", 
      "name": "Sommen, Manou"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey", 
      "name": "Altunoglu, Umut"
    }, 
    {
      "@type": "Person", 
      "name": "Wesdorp, Mieke"
    }, 
    {
      "@type": "Person", 
      "name": "Beyens, Matthias"
    }, 
    {
      "@type": "Person", 
      "name": "Fransen, Erik"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Ajou Univ, Dept Mol Sci & Technol, Synthet Prot Engn Lab SPEL, Suwon, South Korea", 
      "name": "Nasir, Abdul"
    }, 
    {
      "@type": "Person", 
      "name": "Vandeweyer, Geert"
    }, 
    {
      "@type": "Person", 
      "name": "Schepers, Anne"
    }, 
    {
      "@type": "Person", 
      "name": "Rahmoun, Malika"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands", 
      "name": "van Beusekom, Ellen"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Translat Genom Res Inst, Neurogen Div, Phoenix, AZ USA", 
      "name": "Huentelman, Matt J."
    }, 
    {
      "@type": "Person", 
      "affiliation": "St Augustinus Hosp Antwerp, European Inst ORL, Antwerp, Belgium", 
      "name": "Offeciers, Erwin"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Ghent Univ Hosp, Dept Otolaryngol, Ghent, Belgium", 
      "name": "Dhooghe, Ingeborg"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Univ Hosp Zurich, Dept Otorhinolaryngol Head & Neck Surg, Zurich, Switzerland", 
      "name": "Huber, Alex"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Univ Antwerp, Univ Antwerp Hosp, Dept ORL & Head & Neck Surg, Edegem, Belgium", 
      "name": "Van de Heyning, Paul"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Univ Milan, Dept Clin Sci & Community Hlth, Osp Maggiore Policlin, Audiol Unit,IRCCS Fdn Ca Granda, Milan, Italy", 
      "name": "Zanetti, Diego"
    }, 
    {
      "@type": "Person", 
      "name": "De Leenheer, Els M. R."
    }, 
    {
      "@type": "Person", 
      "name": "De Leenheer, Els M. R."
    }
  ], 
  "datePublished": "2019-01-01", 
  "description": "Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.", 
  "headline": "Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis", 
  "identifier": 70275, 
  "image": "https://aperta.ulakbim.gov.tr/static/img/logo/aperta_logo_with_icon.svg", 
  "license": "http://www.opendefinition.org/licenses/cc-by", 
  "name": "Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis", 
  "url": "https://aperta.ulakbim.gov.tr/record/70275"
}
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