Výsledky vyhledávání - "Kleinerüschkamp, F."

Akademický článek

mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.

Autor: Schlingmann KP; Department of General Pediatrics, University Children's Hospital, Münster, Germany., Jouret F; Division of Nephrology, Department of Internal Medicine, University of Liège Hospital, Liège, Belgium.; Interdisciplinary Group of Applied Genoproteomics, Cardiovascular Sciences, University of Liège, Liège, Belgium., Shen K; Whitehead Institute for Biomedical Research, Cambridge, Massachusetts.; Department of Biology, Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts.; Koch Institute for Integrative Cancer Research, Cambridge, Massachusetts.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.; Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts., Nigam A; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Arjona FJ; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Dafinger C; Department of Pediatrics and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany., Houillier P; Cordeliers Research Center, Centre National de la Recherche Scientifique (CNRS), ERL8228, Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne University, University of Paris, Paris, France.; Department of Physiology, Assistance Publique-Hôpitaux de Paris (AP-HP), European Hospital Georges Pompidou, Paris, France.; Reference Center for Hereditary Renal Diseases in Children and Adults (MARHEA), Paris, France., Jones DP; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee., Kleinerüschkamp F; Department of Pediatric Cardiology, University Children's Hospital, Münster, Germany., Oh J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Godefroid N; Division of Pediatric Nephrology, Saint-Luc University Clinics, Catholic University of Louvain, Brussels, Belgium., Eltan M; Department of Pediatric Endocrinology and Diabetes, School of Medicine, Marmara University, Istanbul, Turkey., Güran T; Department of Pediatric Endocrinology and Diabetes, School of Medicine, Marmara University, Istanbul, Turkey., Burtey S; Center for Nephrology and Renal Transplantation, Assistance Publique-Hôpitaux de Marseille, Aix-Marseille University, Marseille, France., Parotte MC; Division of Nephrology-Dialysis, Department of Internal Medicine, CHR Verviers East Belgium, Verviers, Belgium., König J; Department of General Pediatrics, University Children's Hospital, Münster, Germany., Braun A; Department of Pediatrics and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany., Bos C; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Ibars Serra M; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Rehmann H; Department of Molecular Cancer Research, Center for Molecular Medicine, Oncode Institute, University Medical Center Utrecht, Utrecht, The Netherlands., Zwartkruis FJT; Department of Molecular Cancer Research, Center for Molecular Medicine, Oncode Institute, University Medical Center Utrecht, Utrecht, The Netherlands., Renkema KY; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Klingel K; Cardiopathology, Institute for Pathology and Neuropathology, University Hospital Tübingen, Tübingen, Germany., Schulze-Bahr E; Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Münster, Germany., Schermer B; Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; CECAD, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany., Bergmann C; Limbach Genetics, Medizinische Genetik Mainz, Mainz, Germany.; Division of Nephrology, Department of Medicine, University Hospital Freiburg, Breisgau, Germany., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Beck BB; Institute of Human Genetics, University Hospital Cologne and University of Cologne, Faculty of Medicine, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany.; Center for Rare Diseases, Medical Faculty, University of Cologne and University Hospital Cologne, Cologne, Germany., Dahan K; Center of Human Genetics, Gosselies, Belgium.; Division of Nephrology, Saint-Luc University Clinics, Catholic University of Louvain, Brussels, Belgium., Sabatini D; Whitehead Institute for Biomedical Research, Cambridge, Massachusetts.; Department of Biology, Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts.; Koch Institute for Integrative Cancer Research, Cambridge, Massachusetts.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts., Liebau MC; Department of Pediatrics and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Center for Rare Diseases, Medical Faculty, University of Cologne and University Hospital Cologne, Cologne, Germany., Vargas-Poussou R; Department of Genetics, AP-HP, European Hospital Georges Pompidou, Paris, France., Knoers NVAM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Konrad M; Department of General Pediatrics, University Children's Hospital, Münster, Germany., de Baaij JHF; Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2021 Nov; Vol. 32 (11), pp. 2885-2899. Date of Electronic Publication: 2021 Oct 04.

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