Your browser doesn't support javascript.
loading
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Issler, Naomi; Afonso, Sara; Weissman, Irith; Jordan, Katrin; Cebrian-Serrano, Alberto; Meindl, Katrin; Dahlke, Eileen; Tziridis, Konstantin; Yan, Guanhua; Robles-López, José M; Tabernero, Lydia; Patel, Vaksha; Kesselheim, Anne; Klootwijk, Enriko D; Stanescu, Horia C; Dumitriu, Simona; Iancu, Daniela; Tekman, Mehmet; Mozere, Monika; Jaureguiberry, Graciana; Outtandy, Priya; Russell, Claire; Forst, Anna-Lena; Sterner, Christina; Heinl, Elena-Sofia; Othmen, Helga; Tegtmeier, Ines; Reichold, Markus; Schiessl, Ina Maria; Limm, Katharina; Oefner, Peter; Witzgall, Ralph; Fu, Lifei; Theilig, Franziska; Schilling, Achim; Shuster Biton, Efrat; Kalfon, Limor; Fedida, Ayalla; Arnon-Sheleg, Elite; Ben Izhak, Ofer; Magen, Daniella; Anikster, Yair; Schulze, Holger; Ziegler, Christine; Lowe, Martin; Davies, Benjamin; Böckenhauer, Detlef; Kleta, Robert; Falik Zaccai, Tzipora C; Warth, Richard.
Afiliação
  • Issler N; Department of Renal Medicine, University College London, London, United Kingdom.
  • Afonso S; Medical Cell Biology, University of Regensburg, Regensburg, Germany.
  • Weissman I; Pediatric Nephrology, Galilee Medical Center, Nahraia, Israel.
  • Jordan K; Medical Cell Biology, University of Regensburg, Regensburg, Germany.
  • Cebrian-Serrano A; Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
  • Meindl K; Medical Cell Biology, University of Regensburg, Regensburg, Germany.
  • Dahlke E; Institute of Anatomy, University of Kiel, Kiel, Germany.
  • Tziridis K; Ear, Nose, and Throat Clinic, University Hospital Erlangen, Erlangen, Germany.
  • Yan G; Division of Molecular and Cellular Function, University of Manchester, United Kingdom.
  • Robles-López JM; Division of Molecular and Cellular Function, University of Manchester, United Kingdom.
  • Tabernero L; Division of Molecular and Cellular Function, University of Manchester, United Kingdom.
  • Patel V; Department of Renal Medicine, University College London, London, United Kingdom.
  • Kesselheim A; Department of Renal Medicine, University College London, London, United Kingdom.
  • Klootwijk ED; Department of Renal Medicine, University College London, London, United Kingdom.
  • Stanescu HC; Department of Renal Medicine, University College London, London, United Kingdom.
  • Dumitriu S; Department of Renal Medicine, University College London, London, United Kingdom.
  • Iancu D; Department of Renal Medicine, University College London, London, United Kingdom.
  • Tekman M; Department of Renal Medicine, University College London, London, United Kingdom.
  • Mozere M; Department of Renal Medicine, University College London, London, United Kingdom.
  • Jaureguiberry G; Department of Renal Medicine, University College London, London, United Kingdom.
  • Outtandy P; Department of Renal Medicine, University College London, London, United Kingdom.
  • Russell C; Royal Veterinary College, London, United Kingdom.
  • Forst AL; Medical Cell Biology, University of Regensburg, Regensburg, Germany.
  • Sterner C; Medical Cell Biology, University of Regensburg, Regensburg, Germany.
  • Heinl ES; Medical Cell Biology, University of Regensburg, Regensburg, Germany.
  • Othmen H; Medical Cell Biology, University of Regensburg, Regensburg, Germany.
  • Tegtmeier I; Medical Cell Biology, University of Regensburg, Regensburg, Germany.
  • Reichold M; Medical Cell Biology, University of Regensburg, Regensburg, Germany.
  • Schiessl IM; Institute of Physiology, University of Regensburg, Regensburg, Germany.
  • Limm K; Institute of Functional Genomics, University of Regensburg, Regensburg, Germany.
  • Oefner P; Institute of Functional Genomics, University of Regensburg, Regensburg, Germany.
  • Witzgall R; Molecular and Cellular Anatomy, University of Regensburg, Regensburg, Germany.
  • Fu L; Structural Biology, University of Regensburg, Regensburg, Germany.
  • Theilig F; Institute of Anatomy, University of Kiel, Kiel, Germany.
  • Schilling A; Ear, Nose, and Throat Clinic, University Hospital Erlangen, Erlangen, Germany.
  • Shuster Biton E; Institute of Human Genetics, Galilee Medical Center, Nahraia, Israel.
  • Kalfon L; Institute of Human Genetics, Galilee Medical Center, Nahraia, Israel.
  • Fedida A; Institute of Human Genetics, Galilee Medical Center, Nahraia, Israel.
  • Arnon-Sheleg E; Galilee Medical Center, Nahariya, Israel.
  • Ben Izhak O; Department of Pathology, Rambam Health Care Campus, Technion Faculty of Medicine, Haifa, Israel.
  • Magen D; Pediatric Nephrology Institute, Rambam Health Care Campus, Technion Faculty of Medicine, Haifa, Israel.
  • Anikster Y; Sheba Medical Center, Tel Aviv, Israel.
  • Schulze H; Ear, Nose, and Throat Clinic, University Hospital Erlangen, Erlangen, Germany.
  • Ziegler C; Structural Biology, University of Regensburg, Regensburg, Germany.
  • Lowe M; Division of Molecular and Cellular Function, University of Manchester, United Kingdom.
  • Davies B; Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
  • Böckenhauer D; Department of Renal Medicine, University College London, London, United Kingdom.
  • Kleta R; Department of Renal Medicine, University College London, London, United Kingdom.
  • Falik Zaccai TC; The Azrieli Faculty of Medicine, Bar Ilan, Safed, Israel.
  • Warth R; Institute of Human Genetics, Galilee Medical Center, Nahraia, Israel.
J Am Soc Nephrol ; 33(4): 732-745, 2022 04.
Article em En | MEDLINE | ID: mdl-35149593
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Surdez Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Humans Idioma: En Revista: J Am Soc Nephrol Assunto da revista: NEFROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Surdez Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Humans Idioma: En Revista: J Am Soc Nephrol Assunto da revista: NEFROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido