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Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations.
Ebner, Kathrin; Dafinger, Claudia; Ortiz-Bruechle, Nadina; Koerber, Friederike; Schermer, Bernhard; Benzing, Thomas; Dötsch, Jörg; Zerres, Klaus; Weber, Lutz Thorsten; Beck, Bodo B; Liebau, Max Christoph.
Afiliación
  • Ebner K; Department of Pediatrics, University Hospital of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.
  • Dafinger C; Department of Pediatrics, University Hospital of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.
  • Ortiz-Bruechle N; Department II of Internal Medicine and Center for Molecular Medicine Cologne University of Cologne, Cologne, Germany.
  • Koerber F; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD) and Systems Biology of Ageing Cologne (Sybacol) University of Cologne, Cologne, Germany.
  • Schermer B; Institute of Human Genetics, RWTH University Hospital Aachen, Aachen, Germany.
  • Benzing T; Pediatric Radiology, Institute of Diagnostic and Interventional Radiology, University Hospital of Cologne, Cologne, Germany.
  • Dötsch J; Department II of Internal Medicine and Center for Molecular Medicine Cologne University of Cologne, Cologne, Germany.
  • Zerres K; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD) and Systems Biology of Ageing Cologne (Sybacol) University of Cologne, Cologne, Germany.
  • Weber LT; Department II of Internal Medicine and Center for Molecular Medicine Cologne University of Cologne, Cologne, Germany.
  • Beck BB; Cologne Excellence Cluster on Cellular Stress Responses in Ageing-Associated Diseases (CECAD) and Systems Biology of Ageing Cologne (Sybacol) University of Cologne, Cologne, Germany.
  • Liebau MC; Department of Pediatrics, University Hospital of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.
Pediatr Nephrol ; 32(7): 1269-1273, 2017 Jul.
Article en En | MEDLINE | ID: mdl-28364132
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Riñón Poliquístico Autosómico Recesivo / Receptores de Superficie Celular / Hepatomegalia / Riñón / Fallo Renal Crónico Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Newborn Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2017 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Riñón Poliquístico Autosómico Recesivo / Receptores de Superficie Celular / Hepatomegalia / Riñón / Fallo Renal Crónico Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Newborn Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2017 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania