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NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.
Birtel, Johannes; Spital, Georg; Book, Marius; Habbig, Sandra; Bäumner, Sören; Riehmer, Vera; Beck, Bodo B; Rosenkranz, David; Bolz, Hanno J; Dahmer-Heath, Mareike; Herrmann, Philipp; König, Jens; Charbel Issa, Peter.
Afiliação
  • Birtel J; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK; Department of Ophthalmology, University Hospital Bonn, Bonn, Germany.
  • Spital G; Eye Center at St. Franziskus-Hospital Münster, Münster, Germany.
  • Book M; Eye Center at St. Franziskus-Hospital Münster, Münster, Germany.
  • Habbig S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Bäumner S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  • Riehmer V; Institute of Human Genetics, University of Cologne, University Hospital of Cologne, Cologne, Germany.
  • Beck BB; Institute of Human Genetics, University of Cologne, University Hospital of Cologne, Cologne, Germany; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University of Cologne, University Hospital of Cologne, Cologne, Germany.
  • Rosenkranz D; Senckenberg Centre for Human Genetics, Frankfurt, Germany.
  • Bolz HJ; Institute of Human Genetics, University of Cologne, University Hospital of Cologne, Cologne, Germany; Senckenberg Centre for Human Genetics, Frankfurt, Germany.
  • Dahmer-Heath M; Department of General Pediatrics, University Children's Hospital, Münster, Germany.
  • Herrmann P; Department of Ophthalmology, University Hospital Bonn, Bonn, Germany.
  • König J; Department of General Pediatrics, University Children's Hospital, Münster, Germany.
  • Charbel Issa P; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK. Electronic address: study-enquiry@outlook.com.
Kidney Int ; 100(5): 1092-1100, 2021 11.
Article em En | MEDLINE | ID: mdl-34153329
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Proteínas do Citoesqueleto / Proteínas Adaptadoras de Transdução de Sinal / Doenças Renais Císticas Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Kidney Int Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Proteínas do Citoesqueleto / Proteínas Adaptadoras de Transdução de Sinal / Doenças Renais Císticas Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Kidney Int Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha