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Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child.
Maroofian, Reza; Schuele, Isabel; Najafi, Maryam; Bakey, Zeineb; Rad, Abolfazl; Antony, Dinu; Habibi, Haleh; Schmidts, Miriam.
Afiliación
  • Maroofian R; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's, University of London, London, UK.
  • Schuele I; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg, Germany.
  • Najafi M; Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Bakey Z; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg, Germany.
  • Rad A; Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Antony D; Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Habibi H; Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, Iran.
  • Schmidts M; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg, Germany.
Kidney Int Rep ; 3(6): 1454-1463, 2018 Nov.
Article en En | MEDLINE | ID: mdl-30450471
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Kidney Int Rep Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Kidney Int Rep Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido